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  Subjects -> BIOLOGY (Total: 3149 journals)
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BIOTECHNOLOGY (237 journals)                  1 2 | Last

Showing 1 - 200 of 237 Journals sorted alphabetically
3 Biotech     Open Access   (Followers: 8)
Advanced Biomedical Research     Open Access  
Advances in Bioscience and Biotechnology     Open Access   (Followers: 14)
Advances in Genetic Engineering & Biotechnology     Hybrid Journal   (Followers: 8)
African Journal of Biotechnology     Open Access   (Followers: 6)
Algal Research     Partially Free   (Followers: 10)
American Journal of Biochemistry and Biotechnology     Open Access   (Followers: 64)
American Journal of Bioinformatics Research     Open Access   (Followers: 7)
American Journal of Polymer Science     Open Access   (Followers: 31)
Anadolu University Journal of Science and Technology : C Life Sciences and Biotechnology     Open Access  
Animal Biotechnology     Hybrid Journal   (Followers: 8)
Annales des Sciences Agronomiques     Full-text available via subscription  
Applied Biochemistry and Biotechnology     Hybrid Journal   (Followers: 43)
Applied Bioenergy     Open Access  
Applied Biosafety     Hybrid Journal  
Applied Food Biotechnology     Open Access   (Followers: 3)
Applied Microbiology and Biotechnology     Hybrid Journal   (Followers: 63)
Applied Mycology and Biotechnology     Full-text available via subscription   (Followers: 4)
Arthroplasty Today     Open Access   (Followers: 1)
Artificial Cells, Nanomedicine and Biotechnology     Hybrid Journal   (Followers: 1)
Asia Pacific Biotech News     Hybrid Journal   (Followers: 2)
Asian Journal of Biotechnology     Open Access   (Followers: 8)
Asian Pacific Journal of Tropical Biomedicine     Open Access   (Followers: 2)
Australasian Biotechnology     Full-text available via subscription   (Followers: 1)
Banat's Journal of Biotechnology     Open Access  
BBR : Biochemistry and Biotechnology Reports     Open Access   (Followers: 5)
Bio-Algorithms and Med-Systems     Hybrid Journal   (Followers: 2)
Bio-Research     Full-text available via subscription   (Followers: 3)
Bioactive Materials     Open Access   (Followers: 1)
Biocatalysis and Agricultural Biotechnology     Hybrid Journal   (Followers: 4)
Biocybernetics and Biological Engineering     Full-text available via subscription   (Followers: 5)
Bioethics UPdate     Hybrid Journal  
Biofuels     Hybrid Journal   (Followers: 11)
Biofuels Engineering     Open Access   (Followers: 1)
Biological & Pharmaceutical Bulletin     Full-text available via subscription   (Followers: 4)
Biological Cybernetics     Hybrid Journal   (Followers: 10)
Biomarkers and Genomic Medicine     Open Access   (Followers: 3)
Biomarkers in Drug Development     Partially Free   (Followers: 1)
Biomaterials Research     Open Access   (Followers: 4)
BioMed Research International     Open Access   (Followers: 4)
Biomédica     Open Access  
Biomedical and Biotechnology Research Journal     Open Access  
Biomedical Engineering Research     Open Access   (Followers: 6)
Biomedical glasses     Open Access  
Biomedical Reports     Full-text available via subscription  
BioMedicine     Open Access  
Biomedika     Open Access  
Bioprinting     Hybrid Journal   (Followers: 1)
Bioresource Technology Reports     Hybrid Journal   (Followers: 1)
Bioscience, Biotechnology, and Biochemistry     Hybrid Journal   (Followers: 21)
Biosimilars     Open Access   (Followers: 1)
Biosurface and Biotribology     Open Access  
Biotechnic and Histochemistry     Hybrid Journal   (Followers: 2)
BioTechniques : The International Journal of Life Science Methods     Full-text available via subscription   (Followers: 28)
Biotechnologia Acta     Open Access   (Followers: 1)
Biotechnologie, Agronomie, Société et Environnement     Open Access   (Followers: 2)
Biotechnology     Open Access   (Followers: 5)
Biotechnology & Biotechnological Equipment     Open Access   (Followers: 4)
Biotechnology Advances     Hybrid Journal   (Followers: 33)
Biotechnology and Applied Biochemistry     Hybrid Journal   (Followers: 44)
Biotechnology and Bioengineering     Hybrid Journal   (Followers: 155)
Biotechnology and Bioprocess Engineering     Hybrid Journal   (Followers: 5)
Biotechnology and Genetic Engineering Reviews     Hybrid Journal   (Followers: 13)
Biotechnology and Health Sciences     Open Access   (Followers: 1)
Biotechnology and Molecular Biology Reviews     Open Access   (Followers: 2)
Biotechnology Annual Review     Full-text available via subscription   (Followers: 5)
Biotechnology for Biofuels     Open Access   (Followers: 10)
Biotechnology Frontier     Open Access   (Followers: 2)
Biotechnology Journal     Hybrid Journal   (Followers: 16)
Biotechnology Law Report     Hybrid Journal   (Followers: 4)
Biotechnology Letters     Hybrid Journal   (Followers: 34)
Biotechnology Progress     Hybrid Journal   (Followers: 39)
Biotechnology Reports     Open Access  
Biotechnology Research International     Open Access   (Followers: 1)
Biotechnology Techniques     Hybrid Journal   (Followers: 10)
Biotecnología Aplicada     Open Access  
Bioteknologi (Biotechnological Studies)     Open Access  
Biotribology     Hybrid Journal   (Followers: 1)
BMC Biotechnology     Open Access   (Followers: 16)
Cell Biology and Development     Open Access  
Chinese Journal of Agricultural Biotechnology     Full-text available via subscription   (Followers: 4)
Communications in Mathematical Biology and Neuroscience     Open Access  
Computational and Structural Biotechnology Journal     Open Access   (Followers: 2)
Computer Methods and Programs in Biomedicine     Hybrid Journal   (Followers: 8)
Contributions to Tobacco Research     Open Access   (Followers: 2)
Copernican Letters     Open Access   (Followers: 1)
Critical Reviews in Biotechnology     Hybrid Journal   (Followers: 20)
Crop Breeding and Applied Biotechnology     Open Access   (Followers: 3)
Current Bionanotechnology     Hybrid Journal  
Current Biotechnology     Hybrid Journal   (Followers: 4)
Current Opinion in Biomedical Engineering     Hybrid Journal   (Followers: 1)
Current Opinion in Biotechnology     Hybrid Journal   (Followers: 56)
Current Pharmaceutical Biotechnology     Hybrid Journal   (Followers: 9)
Current Research in Bioinformatics     Open Access   (Followers: 12)
Current Trends in Biotechnology and Chemical Research     Open Access   (Followers: 3)
Current trends in Biotechnology and Pharmacy     Open Access   (Followers: 8)
EBioMedicine     Open Access  
Electronic Journal of Biotechnology     Open Access  
Entomologia Generalis     Full-text available via subscription  
Environmental Science : Processes & Impacts     Full-text available via subscription   (Followers: 4)
Experimental Biology and Medicine     Hybrid Journal   (Followers: 3)
Folia Medica Indonesiana     Open Access  
Food Bioscience     Hybrid Journal  
Food Biotechnology     Hybrid Journal   (Followers: 9)
Food Science and Biotechnology     Hybrid Journal   (Followers: 8)
Frontiers in Bioengineering and Biotechnology     Open Access   (Followers: 6)
Frontiers in Systems Biology     Open Access   (Followers: 2)
Fungal Biology and Biotechnology     Open Access   (Followers: 2)
GM Crops and Food: Biotechnology in Agriculture and the Food Chain     Full-text available via subscription   (Followers: 1)
GSTF Journal of BioSciences     Open Access  
HAYATI Journal of Biosciences     Open Access  
Horticulture, Environment, and Biotechnology     Hybrid Journal   (Followers: 11)
IEEE Transactions on Molecular, Biological and Multi-Scale Communications     Hybrid Journal   (Followers: 1)
IET Nanobiotechnology     Hybrid Journal   (Followers: 2)
IIOAB Letters     Open Access  
IN VIVO     Full-text available via subscription   (Followers: 4)
Indian Journal of Biotechnology (IJBT)     Open Access   (Followers: 2)
Indonesia Journal of Biomedical Science     Open Access   (Followers: 2)
Indonesian Journal of Biotechnology     Open Access   (Followers: 1)
Industrial Biotechnology     Hybrid Journal   (Followers: 18)
International Biomechanics     Open Access  
International Journal of Bioinformatics Research and Applications     Hybrid Journal   (Followers: 13)
International Journal of Biomechatronics and Biomedical Robotics     Hybrid Journal   (Followers: 4)
International Journal of Biomedical Research     Open Access   (Followers: 2)
International Journal of Biotechnology     Hybrid Journal   (Followers: 5)
International Journal of Biotechnology and Molecular Biology Research     Open Access   (Followers: 3)
International Journal of Biotechnology for Wellness Industries     Partially Free   (Followers: 1)
International Journal of Environment, Agriculture and Biotechnology     Open Access   (Followers: 5)
International Journal of Functional Informatics and Personalised Medicine     Hybrid Journal   (Followers: 4)
International Journal of Medicine and Biomedical Research     Open Access   (Followers: 1)
International Journal of Nanotechnology and Molecular Computation     Full-text available via subscription   (Followers: 3)
International Journal of Radiation Biology     Hybrid Journal   (Followers: 4)
Iranian Journal of Biotechnology     Open Access  
ISABB Journal of Biotechnology and Bioinformatics     Open Access  
Italian Journal of Food Science     Open Access   (Followers: 1)
Journal of Biometrics & Biostatistics     Open Access   (Followers: 3)
Journal of Bioterrorism & Biodefense     Open Access   (Followers: 6)
Journal of Petroleum & Environmental Biotechnology     Open Access   (Followers: 1)
Journal of Advanced Therapies and Medical Innovation Sciences     Open Access  
Journal of Advances in Biotechnology     Open Access   (Followers: 5)
Journal Of Agrobiotechnology     Open Access  
Journal of Analytical & Bioanalytical Techniques     Open Access   (Followers: 7)
Journal of Animal Science and Biotechnology     Open Access   (Followers: 4)
Journal of Applied Biomedicine     Open Access   (Followers: 2)
Journal of Applied Biotechnology     Open Access   (Followers: 2)
Journal of Applied Biotechnology Reports     Open Access   (Followers: 2)
Journal of Applied Mathematics & Bioinformatics     Open Access   (Followers: 5)
Journal of Biologically Active Products from Nature     Hybrid Journal   (Followers: 1)
Journal of Biomaterials and Nanobiotechnology     Open Access   (Followers: 6)
Journal of Biomedical Photonics & Engineering     Open Access  
Journal of Biomedical Practitioners     Open Access  
Journal of Bioprocess Engineering and Biorefinery     Full-text available via subscription  
Journal of Bioprocessing & Biotechniques     Open Access  
Journal of Biosecurity, Biosafety and Biodefense Law     Hybrid Journal   (Followers: 3)
Journal of Biotechnology     Hybrid Journal   (Followers: 68)
Journal of Biotechnology and Strategic Health Research     Open Access  
Journal of Chemical and Biological Interfaces     Full-text available via subscription   (Followers: 1)
Journal of Chemical Technology & Biotechnology     Hybrid Journal   (Followers: 9)
Journal of Chitin and Chitosan Science     Full-text available via subscription  
Journal of Colloid Science and Biotechnology     Full-text available via subscription  
Journal of Commercial Biotechnology     Full-text available via subscription   (Followers: 6)
Journal of Crop Science and Biotechnology     Hybrid Journal   (Followers: 3)
Journal of Essential Oil Research     Hybrid Journal   (Followers: 2)
Journal of Experimental Biology     Full-text available via subscription   (Followers: 24)
Journal of Genetic Engineering and Biotechnology     Open Access   (Followers: 5)
Journal of Ginseng Research     Open Access  
Journal of Industrial Microbiology and Biotechnology     Hybrid Journal   (Followers: 16)
Journal of Integrative Bioinformatics     Open Access  
Journal of International Biotechnology Law     Hybrid Journal   (Followers: 3)
Journal of Medical Imaging and Health Informatics     Full-text available via subscription  
Journal of Molecular Biology and Biotechnology     Open Access  
Journal of Molecular Microbiology and Biotechnology     Full-text available via subscription   (Followers: 11)
Journal of Nano Education     Full-text available via subscription  
Journal of Nanobiotechnology     Open Access   (Followers: 4)
Journal of Nanofluids     Full-text available via subscription   (Followers: 1)
Journal of Organic and Biomolecular Simulations     Open Access  
Journal of Plant Biochemistry and Biotechnology     Hybrid Journal   (Followers: 4)
Journal of Science and Applications : Biomedicine     Open Access  
Journal of the Mechanical Behavior of Biomedical Materials     Hybrid Journal   (Followers: 11)
Journal of Trace Elements in Medicine and Biology     Hybrid Journal   (Followers: 1)
Journal of Tropical Microbiology and Biotechnology     Full-text available via subscription  
Journal of Yeast and Fungal Research     Open Access   (Followers: 1)
Marine Biotechnology     Hybrid Journal   (Followers: 4)
Messenger     Full-text available via subscription  
Metabolic Engineering Communications     Open Access   (Followers: 4)
Metalloproteinases In Medicine     Open Access  
Microalgae Biotechnology     Open Access   (Followers: 2)
Microbial Biotechnology     Open Access   (Followers: 9)
MicroMedicine     Open Access   (Followers: 3)
Molecular and Cellular Biomedical Sciences     Open Access  
Molecular Biotechnology     Hybrid Journal   (Followers: 13)
Molecular Genetics and Metabolism Reports     Open Access   (Followers: 3)
Nanobiomedicine     Open Access  
Nanobiotechnology     Hybrid Journal   (Followers: 2)
Nanomaterials and Nanotechnology     Open Access  
Nanomaterials and Tissue Regeneration     Open Access  
Nanomedicine and Nanobiology     Full-text available via subscription  
Nanomedicine Research Journal     Open Access  
Nanotechnology Reviews     Hybrid Journal   (Followers: 5)
Nature Biotechnology     Full-text available via subscription   (Followers: 535)

        1 2 | Last

Journal Cover
Molecular Genetics and Metabolism Reports
Journal Prestige (SJR): 0.523
Citation Impact (citeScore): 1
Number of Followers: 3  

  This is an Open Access Journal Open Access journal
ISSN (Print) 2214-4269
Published by Elsevier Homepage  [3163 journals]
  • Pompe disease treatment with twice a week high dose alglucoside alfa in a
           patient with severe dilated cardiomyopathy

    • Authors: Jesa L. Landis; Holly Hyland; Steven J. Kindel; Ann Punnoose; Gabrielle C. Geddes
      Pages: 1 - 4
      Abstract: Publication date: September 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 16
      Author(s): Jesa L. Landis, Holly Hyland, Steven J. Kindel, Ann Punnoose, Gabrielle C. Geddes
      There is limited information regarding ideal dosage of alglucoside alfa in patients with Infantile Onset Pompe Disease (IOPD). The U.S. Food and Drug Administration approved alglucoside alfa at dosing of 20 mg/kg every other week, but there are small studies and case reports suggesting that dosing higher than this leads to improved ventilator free survival and development without adverse events. We review the clinical course and short term clinical outcomes one year following late diagnosis of IOPD in a 3 month old who presented severely affected and was treated with 40 mg/kg twice a week for 21 infusions until six months of age then transitioned to 40 mg/kg/week. The patient responded well to 40 mg/kg twice a week treatment without adverse reactions and significant clinical improvement.

      PubDate: 2018-05-31T15:38:50Z
      DOI: 10.1016/j.ymgmr.2018.05.002
      Issue No: Vol. 16 (2018)
       
  • CPT-II deficiency needs to be detected in army personnel

    • Authors: Josef Finsterer
      First page: 11
      Abstract: Publication date: September 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 16
      Author(s): Josef Finsterer


      PubDate: 2018-05-31T15:38:50Z
      DOI: 10.1016/j.ymgmr.2018.05.005
      Issue No: Vol. 16 (2018)
       
  • High incidence of low vitamin B12 levels in Estonian newborns

    • Authors: Karit Reinson; Kadi Künnapas; Annika Kriisa; Mari-Anne Vals; Kai Muru; Katrin Õunap
      Pages: 1 - 5
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Karit Reinson, Kadi Künnapas, Annika Kriisa, Mari-Anne Vals, Kai Muru, Katrin Õunap
      Vitamin B12 deficiency seems to be more common worldwide than previously thought. However, only a few reports based on data from newborn screening (NBS) programs have drawn attention to that subject. In Estonia, over the past three years, we have diagnosed 14 newborns with congenital acquired vitamin B12 deficiency. Therefore, the incidence of that condition is 33.8/100,000 live births, which is considerably more than previously believed. None of the newborns had any clinical symptoms associated with vitamin B12 deficiency before the treatment, and all biochemical markers normalized after treatment, which strongly supports the presence of treatable congenital deficiency of vitamin B12. During the screening period, we began using actively ratios of some metabolites like propionylcarnitine (C3) to acetylcarnitine (C2) and C3 to palmitoylcarnitine (C16) to improve the identification of newborns with acquired vitamin B12 deficiency. In the light of the results obtained, we will continue to screen the congenital acquired vitamin B12 deficiency among our NBS program. Every child with aberrant C3, C3/C2 and C3/C16 will be thoroughly examined to exclude acquired vitamin B12 deficiency, which can easily be corrected in most cases.

      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2017.11.002
      Issue No: Vol. 15 (2018)
       
  • Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no
           visual involvement

    • Authors: Ahmed N. Mohammad; Katelyn A. Bruno; S. Hines; Paldeep S. Atwal
      Pages: 11 - 14
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Ahmed N. Mohammad, Katelyn A. Bruno, S. Hines, Paldeep S. Atwal
      Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis is classified into two types, based on phenotype and age of onset. Patients with the milder type 1 typically present late, usually in the second or third decade, with myoclonus, ataxia and visual defects. Type 2 is more severe and presents earlier with coarse facial features, developmental delay, hepatosplenomegaly and dysostosis multiplex. Presentation and severity of the disease are related to whether lysosomal sialidase is inactive or there is some residual activity. Diagnosis is suspected based on clinical features and increased urinary bound sialic acid excretion and confirmed by genetic testing showing pathogenic variants in NEU1. We report a patient with type 1 sialidosis who presented mainly with ataxia and both generalized and myoclonic seizures but no visual involvement. Whole exome sequencing of the proband detected compound heterozygous likely pathogenic variants (S182G and G227R) in NEU1.

      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2017.12.005
      Issue No: Vol. 15 (2018)
       
  • S-adenosylhomocysteine hydrolase over-expression does not alter
           S-adenosylmethionine or S-adenosylhomocysteine levels in CBS deficient
           mice

    • Authors: Hyung-Ok Lee; Liqun Wang; Yin-Ming Kuo; Andrew J. Andrews; Sapna Gupta; Warren D. Kruger
      Pages: 15 - 21
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Hyung-Ok Lee, Liqun Wang, Yin-Ming Kuo, Andrew J. Andrews, Sapna Gupta, Warren D. Kruger
      Elevated plasma total homocysteine (tHcy) is associated with a number of human diseases including coronary artery disease, stroke, osteoporosis and dementia. It is highly correlated with intracellular S-adenosylhomocysteine (SAH). Since SAH is a strong inhibitor of methyl-transfer reactions involving the methyl-donor S-adenosylmethionine (SAM), elevation in SAH could be an explanation for the wide association of tHcy and human disease. Here, we have created a transgenic mouse (Tg-hAHCY) that expresses human S-adenosylhomocysteine hydrolase (AHCY) from a zinc-inducible promoter in the liver and kidney. Protein analysis shows that human AHCY is expressed well in both liver and kidney, but elevated AHCY enzyme activity (131% increase) is only detected in the kidney due to the high levels of endogenous mouse AHCY expression in liver. Tg-hAHCY mice were crossed with mice lacking cystathionine β-synthase activity (Tg-I278T Cbs −/− ) to explore the effect to AHCY overexpression in the context of elevated serum tHcy and elevated tissue SAM and SAH. Overexpression of AHCY had no significant effect on the phenotypes of Tg-I278T Cbs −/− mice or any effect on the steady state concentrations of methionine, total homocysteine, SAM, SAH, and SAM/SAH ratio in the liver and kidney. Furthermore, enhanced AHCY activity did not lower serum and tissue tHcy or methionine levels. Our data suggests that enhancing AHCY activity does not alter the distribution of methionine recycling metabolites, even when they are greatly elevated by Cbs mutations.

      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.01.002
      Issue No: Vol. 15 (2018)
       
  • Natural history of children and adults with maple syrup urine disease in
           the NBS-MSUD Connect registry

    • Authors: Aileen Kenneson; Yetsa Osara; Theresa Pringle; Lauren Youngborg; Rani H. Singh
      Pages: 22 - 27
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Aileen Kenneson, Yetsa Osara, Theresa Pringle, Lauren Youngborg, Rani H. Singh


      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.01.001
      Issue No: Vol. 15 (2018)
       
  • Phenotypic variability of MTO1-deficiency

    • Authors: Josef Finsterer; Sinda Zarrouk-Mahjoub
      Pages: 28 - 29
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub


      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.01.003
      Issue No: Vol. 15 (2018)
       
  • Sex differences in body composition and bone mineral density in
           phenylketonuria: A cross-sectional study

    • Authors: Bridget M. Stroup; Karen E. Hansen; Diane Krueger; Neil Binkley; Denise M. Ney
      Pages: 30 - 35
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Bridget M. Stroup, Karen E. Hansen, Diane Krueger, Neil Binkley, Denise M. Ney
      Background Low bone mineral density (BMD) and subsequent skeletal fragility have emerged as a long-term complication of phenylketonuria (PKU). Objective To determine if there are differences in BMD and body composition between male and female participants with PKU. Methods From our randomized, crossover trial [1] of participants with early-treated PKU who consumed a low-phenylalanine (Phe) diet combined with amino acid medical foods (AA-MF) or glycomacropeptide medical foods (GMP-MF), a subset of 15 participants (6 males, 9 females, aged 15–50 y, 8 classical and 7 variant PKU) completed one dual energy X-ray absorptiometry (DXA) scan and 3-day food records after each dietary treatment. Participants reported lifelong compliance with AA-MF. In a crossover design, 8 participants (4 males, 4 females, aged 16–35y) provided a 24-h urine collection after consuming AA-MF or GMP-MF for 1–3weeks each. Results Male participants had significantly lower mean total body BMD Z-scores (means±SE, males=−0.9±0.4; females, 0.2±0.3; p =0.01) and tended to have lower mean L1–4 spine and total femur BMD Z-scores compared to female participants. Only 50% percent of male participants had total body BMD Z-scores above −1.0 compared to 100% of females (p =0.06). Total femur Z-scores were negatively correlated with intake of AA-MF (r =−0.58; p =0.048). Males tended to consume more grams of protein equivalents per day from AA-MF (means±SE, males: 67±6g, females: 52±4g; p =0.057). Males and females demonstrated similar urinary excretion of renal net acid, magnesium and sulfate; males showed a trend for higher urinary calcium excretion compared to females (means ± SE, males: 339±75mg/d, females: 228±69mg/d; p =0.13). Females had a greater percentage of total fat mass compared to males (means±SE, males: 24.5±4.8%, females: 36.5±2.5%; p =0.047). Mean appendicular lean mass index was similar between males and females. Male participants had low-normal lean mass based on the appendicular lean mass index. Conclusions Males with PKU have lower BMD compared with females with PKU that may be related to higher intake of AA-MF and greater calcium excretion. The trial was registered at www.clinicaltrials.gov as NCT01428258.

      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.01.004
      Issue No: Vol. 15 (2018)
       
  • Effects of cold exposure on metabolites in brown adipose tissue of rats

    • Authors: Yuka Hiroshima; Takenori Yamamoto; Masahiro Watanabe; Yoshinobu Baba; Yasuo Shinohara
      Pages: 36 - 42
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Yuka Hiroshima, Takenori Yamamoto, Masahiro Watanabe, Yoshinobu Baba, Yasuo Shinohara
      Brown adipose tissue (BAT) plays an important role in regulation of energy expenditure while adapting to a cold environment. BAT thermogenesis depends on uncoupling protein 1 (UCP1), which is expressed in the inner mitochondrial membranes of BAT. Gene expression profiles induced by cold exposure in BAT have been studied, but the metabolomic biological pathway that contributes to the activation of thermogenesis in BAT remains unclear. In this study, we comprehensively compared the relative levels of metabolites between the BAT of rats kept at room temperature (22 °C) and of those exposed to a cold temperature (4 °C) for 48 h using capillary electrophoresis (CE) time-of-flight mass spectrometry (TOFMS) and liquid chromatography (LC)-TOFMS. We identified 218 metabolites (137 cations and 81 anions) by CE-TOFMS and detected 81 metabolites (47 positive and 34 negative) by LC-TOFMS in BAT. We found that cold exposure highly influenced the BAT metabolome. We showed that the cold environment lead to lower levels of glycolysis and gluconeogenesis intermediates and higher levels of the tricarboxylic acid (TCA) cycle metabolites, fatty acids, and acyl-carnitine metabolites than control conditions in the BAT of rats. These results indicate that glycolysis and β-oxidation of fatty acids in BAT are positive biological pathways that contribute to the activation of thermogenesis by cold exposure, thereby facilitating the generation of heat by UCP1. These data provide useful information for understanding the basal metabolic functions of BAT thermogenesis in rats in response to cold exposure.

      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.01.005
      Issue No: Vol. 15 (2018)
       
  • An atypical p.N215S variant of Fabry disease with end-stage renal failure

    • Authors: Max Sugarman; Jamil Choudhury; Ana Jovanovic
      Pages: 43 - 45
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Max Sugarman, Jamil Choudhury, Ana Jovanovic
      Fabry disease is an X-linked metabolic disorder resulting in widespread deposition of Globotriaosylceramide within a variety of human tissues. The classical Fabry phenotype is one of early onset disease, with extensive tissue involvement resulting in acroparaesthesia, gastrointestinal disturbances, angiokeratoma, cornea verticillata renal failure, and cardiovascular disease. We describe two brothers exhibiting the GLA p.N215S mutation, a variant most often conferring a late-onset disease confined to the myocardium. The proband was diagnosed aged 34, following investigation into proteinuria. Despite Enzyme Replacement Therapy, he progressed to end-stage renal failure, and subsequently received a renal transplant. He also developed hypertrophic cardiomyopathy. His sibling however, whose disease was detected aged 32 following screening, exhibits mild left ventricular hypertrophy, and no evidence of renal disease. He remains clinically asymptomatic. This case report details a discordant phenotype in brothers with Fabry disease and p.N215S mutation. Despite the fact that in the majority of patients this mutation is associated with a late onset presentation with hypertrophic cardiomyopathy, we have clearly demonstrated that patients with GLA p.N215S mutation can present with the classical phenotype. Further studies are required to elucidate the underlying modifying factors that influence clinical presentation with a more severe phenotype.

      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.01.006
      Issue No: Vol. 15 (2018)
       
  • Hyperphosphatasia with mental retardation syndrome, expanded phenotype of
           PIGL related disorders

    • Authors: Ruqaiah Altassan; Stephanie Fox; Chantal Poulin; Daniela Buhas
      Pages: 46 - 49
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Ruqaiah Altassan, Stephanie Fox, Chantal Poulin, Daniela Buhas
      Hypomorphic mutations in six different genes involved in the glycosylphosphatidylinositol (GPI) biogenesis pathway are linked to Mabry syndrome (hyperphosphatasia with mental retardation syndrome, HPMRS). This report on the third affected family with a HPMRS phenotype caused by mutations in PIGL, confirming the seventh GPI biogenesis gene linked to HPMRS. Two siblings presented with the main features of HPMRS; developmental delay, cognitive impairment, seizure disorder, skeletal deformities, and high alkaline phosphatase. We identified two heterozygous mutations in the PIGL gene (P.Trp20Ter and p.Arg88Cys). PIGL mutations have been linked to another distinctive neuroectodermal disorder: CHIME syndrome. The clinical picture of our patients expands the spectrum of PIGL-related phenotypes.

      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.01.007
      Issue No: Vol. 15 (2018)
       
  • The phenotype, genotype, and outcome of infantile-onset Pompe disease in
           18 Saudi patients

    • Authors: Zuhair N. Al-Hassnan; Ola A. Khalifa; Dalal K. Bubshait; Sahar Tulbah; Maarab Alkorashy; Hamad Alzaidan; Mohammed Alowain; Zuhair Rahbeeni; Moeen Al-Sayed
      Pages: 50 - 54
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Zuhair N. Al-Hassnan, Ola A. Khalifa, Dalal K. Bubshait, Sahar Tulbah, Maarab Alkorashy, Hamad Alzaidan, Mohammed Alowain, Zuhair Rahbeeni, Moeen Al-Sayed
      Infantile-Onset Pompe Disease (IOPD) is an autosomal recessive disorder of glycogen metabolism resulting from deficiency of the lysosomal hydrolase acid α-glucosidase encoded by GAA gene. Affected infants present before the age of 12 months with hypotonia, muscle weakness, and hypertrophic cardiomyopathy. Enzyme replacement therapy (ERT) has been shown to improve survival, cardiac mass, and motor skills. In this work, we aim to illustrate the genotypes of IOPD and the outcome of ERT in our population. The medical records of infants with confirmed diagnosis of IOPD who received ERT were reviewed. Eighteen infants (7 males, 11 females) were included in the study. The median age at presentation was 2 months and the median age at the start of ERT was 4.5 months. Fifteen (83.3%) infants died with a median age at death of 12 months. The 3 alive infants (whose current ages are 6½ years, 6 years, and 10 years), who were initiated on ERT at the age of 3 weeks, 5 months, and 8 months respectively, has had variable response with requirement of assisted ventilation in one child and tracheostomy in another child. All infants were homozygous for GAA mutations except one infant who was compound heterozygous. All infants (n = 8) with truncating mutations died. Our work provides insight into the correlation of genotypes and outcome of ERT in IOPD in Saudi Arabia. Our data suggest that early detection of cases, through newborn screening, and immunomodulation before the initiation of ERT may improve the outcome of ERT in Saudi infants with IOPD.

      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.02.001
      Issue No: Vol. 15 (2018)
       
  • Open-label clinical trial of bezafibrate treatment in patients with fatty
           acid oxidation disorders in Japan

    • Authors: Kenji Yamada; Hideaki Shiraishi; Eishin Oki; Mika Ishige; Toshiyuki Fukao; Yusuke Hamada; Norio Sakai; Fumihiro Ochi; Asami Watanabe; Sanae Kawakami; Kazuyo Kuzume; Kenji Watanabe; Koji Sameshima; Kiyotaka Nakamagoe; Akira Tamaoka; Naoko Asahina; Saki Yokoshiki; Takashi Miyakoshi; Kota Ono; Koji Oba; Toshiyuki Isoe; Hiroshi Hayashi; Seiji Yamaguchi; Norihiro Sato
      Pages: 55 - 63
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Kenji Yamada, Hideaki Shiraishi, Eishin Oki, Mika Ishige, Toshiyuki Fukao, Yusuke Hamada, Norio Sakai, Fumihiro Ochi, Asami Watanabe, Sanae Kawakami, Kazuyo Kuzume, Kenji Watanabe, Koji Sameshima, Kiyotaka Nakamagoe, Akira Tamaoka, Naoko Asahina, Saki Yokoshiki, Takashi Miyakoshi, Kota Ono, Koji Oba, Toshiyuki Isoe, Hiroshi Hayashi, Seiji Yamaguchi, Norihiro Sato
      Introduction Fatty acid oxidation disorders (FAODs) are rare diseases caused by defects in mitochondrial fatty acid oxidation (FAO) enzymes. While the efficacy of bezafibrate, a peroxisome proliferator-activated receptor agonist, on the in vitro FAO capacity has been reported, the in vivo efficacy remains controversial. Therefore, we conducted a clinical trial of bezafibrate in Japanese patients with FAODs. Materials and methods This trial was an open-label, non-randomized, and multicenter study of bezafibrate treatment in 6 patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and 2 patients with carnitine palmitoyltransferase-II (CPT-2) deficiency (median age, 8.2 years; ranging from 5.8 to 26.4 years). Bezafibrate was administered for 6 months following a 6-month observation period. The primary endpoint was the frequency of myopathic attacks, and the secondary endpoints were serum acylcarnitines (ACs, C14:1 or C16 + C18:1), creatine kinase (CK) levels, degree of muscle pain (VAS; visual analog scale) during myopathic attacks, and quality of life (QOL; evaluated using validated questionnaires). Results The frequency of myopathic attacks after bezafibrate administration decreased in 3 patients, increased in 3, and did not change in 2. The CK, AC, and VAS values during attacks could be estimated in only three or four patients, but a half of the patients did not experience attacks before or after treatment. Changes in CK, AC, and VAS values varied across individuals. In contrast, three components of QOL, namely, physical functioning, role limitation due to physical problems (role physical), and social functioning, were significantly elevated. No adverse drug reactions were observed. Conclusion In this study, the frequency of myopathic attacks and CK, AC, and VAS values during the attacks could not be evaluated due to several limitations, such as a small trial population. Our findings indicate that bezafibrate improves the QOL of patients with FAODs, but its efficacy must be examined in future investigations.

      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.02.003
      Issue No: Vol. 15 (2018)
       
  • Clinicopathological features associated with the BAG3-Pro209Leu mutation

    • Authors: A. Schänzer; S. Rupp; B. Garvalov; A. Hahn
      First page: 64
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): A. Schänzer, S. Rupp, B. Garvalov, A. Hahn


      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.02.004
      Issue No: Vol. 15 (2018)
       
  • BAG3-related myofibrillar myopathy requiring heart transplantation for
           restrictive cardiomyopathy

    • Authors: Josef Finsterer; Sinda Zarrouk-Mahjoub
      Pages: 65 - 66
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub


      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.02.002
      Issue No: Vol. 15 (2018)
       
  • A beneficial effect of l-arginine for stroke-like episodes is currently
           unsupported

    • Authors: Josef Finsterer; Sinda Zarrouk-Mahjoub
      Pages: 67 - 68
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub


      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.02.006
      Issue No: Vol. 15 (2018)
       
  • Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II
           deficiency, common but under-recognised: Lessons to be learnt

    • Authors: M. Balasubramanian; T.M. Jenkins; R.J. Kirk; I.M. Nesbitt; S.E. Olpin; M. Hill; G.T. Gillett
      Pages: 69 - 70
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): M. Balasubramanian, T.M. Jenkins, R.J. Kirk, I.M. Nesbitt, S.E. Olpin, M. Hill, G.T. Gillett
      We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following exercise with myoglobinuria; genetic testing confirmed carnitine palmitoyltransferase II deficiency and resulted in institution of appropriate crisis management and dietary advice. We explore the phenotypic variability of this commonest fatty oxidation defect that remains under-diagnosed in the adult population and provide clues for early recognition and diagnosis.

      PubDate: 2018-03-07T01:29:25Z
      DOI: 10.1016/j.ymgmr.2018.02.008
      Issue No: Vol. 15 (2018)
       
  • Risks of long-term port use in enzyme replacement therapy for lysosomal
           storage disorders

    • Authors: Christian J. Hendriksz; Paul Harmatz; Roberto Giugliani; Jane Roberts; G. Suren Arul
      Pages: 71 - 73
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Christian J. Hendriksz, Paul Harmatz, Roberto Giugliani, Jane Roberts, G. Suren Arul
      Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs). This case series describes potential complications associated with long-term TIVAD use, such as compromise of skin integrity, infection, or port failures. Best practices and skilled specialists are essential for minimizing complications from long-term TIVAD use for ERT.

      PubDate: 2018-03-18T20:41:04Z
      DOI: 10.1016/j.ymgmr.2018.02.007
      Issue No: Vol. 15 (2018)
       
  • Microvascular endothelial dysfunction in mitochondrial stroke-like
           episodes supports use of intravenous l-arginine

    • Authors: Rebecca D. Ganetzky; Marni J. Falk
      First page: 74
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Rebecca D. Ganetzky, Marni J. Falk


      PubDate: 2018-03-18T20:41:04Z
      DOI: 10.1016/j.ymgmr.2018.03.001
      Issue No: Vol. 15 (2018)
       
  • Genotypes of patients with phenylalanine hydroxylase deficiency in the
           Wisconsin Amish

    • Authors: Jessica Scott Schwoerer; Nicoletta Drilias; Ashley Kuhl; Sean Mochal; Mei Baker
      Pages: 75 - 77
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Jessica Scott Schwoerer, Nicoletta Drilias, Ashley Kuhl, Sean Mochal, Mei Baker
      In the Plain Community, there is an increased frequency of genetic disorders including phenylalanine hydroxylase (PAH) deficiency. Common pathogenic variants have been observed due to founder effect and closed community. This study obtained genotypes of 12 Plain individuals with PAH deficiency, identified through newborn screen or diagnosed by symptomatic presentation, who are receiving medical care at the University of Wisconsin metabolic clinic. Genotype and phenotypic data were evaluated to characterize genotype-phenotype correlations. Results can inform the need for confirmatory testing for the disorder and provide a better understanding of the biochemical phenotype, which may help with management.

      PubDate: 2018-03-18T20:41:04Z
      DOI: 10.1016/j.ymgmr.2018.02.005
      Issue No: Vol. 15 (2018)
       
  • The promoter region of 46-kDa CNPase is sufficient for its expression in
           corpus callosum

    • Authors: Yuki Miyamoto; Tomohiro Torii; Akito Tanoue; Masahiro Yamamoto; Junji Yamauchi
      Pages: 78 - 79
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Yuki Miyamoto, Tomohiro Torii, Akito Tanoue, Masahiro Yamamoto, Junji Yamauchi


      PubDate: 2018-03-18T20:41:04Z
      DOI: 10.1016/j.ymgmr.2018.03.003
      Issue No: Vol. 15 (2018)
       
  • Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite
           in Niemann-Pick disease type C-affected individuals

    • Authors: Ryuichi Mashima; Masamitsu Maekawa; Aya Narita; Torayuki Okuyama; Nariyasu Mano
      Pages: 90 - 95
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Ryuichi Mashima, Masamitsu Maekawa, Aya Narita, Torayuki Okuyama, Nariyasu Mano
      Niemann-Pick disease type C (NPC) is a neurovisceral disorder associated with the accumulation of lipids such as cholesterol and sphingolipids. NPC is caused by either NPC1 or NPC2, which encode lysosomal proteins located at membraneous and soluble fractions, respectively. For the past decade, the oxidation products of cholesterol, such as cholestane-3β,5α,6β-triol and 7-ketocholesterol, have been considered selective biomarkers for NPC. However, recent evidence has indicated numerous novel biomarkers for NPC, which raises the possibility that the diagnosis of NPC might be associated with the elevation of multiple lipid biomarkers, rather than a single biomarker. Sphingosylphosphorylcholine (SPC) has been suggested to be one such biomarker for NPC, in which elevated sphingomyelin is a potential precursor. Thus, we first performed a validation study of plasma SPC using LC-MS/MS. The results showed the following plasma concentrations in the NPC-affected and control individuals, respectively: 8.2 ± 2.8 nM (mean ± SD; median, 7.0 nM; max, 11.7 nM; min, 5.1 nM; n = 5) and 3.1 ± 1.4 nM (median, 2.9 nM; max, 4.8 nM; min, 1.5 nM; n = 7). We further extended the study to plasma lysophingomyelin-509 for NPC, a newly reported biomarker with uncharacterized chemical nature. Based on these result with plasma SPC as a surrogate marker, the value of mean of median of plasma lysophingomyelin-509 in NPC-affected individuals elevated at 65.2 (max, 73.2; min, 26.7; n = 5). Furthermore, the efficacy of plasma SPC and lysosphingomyelin-509 as promising biomarkers for this disorder was supported by the finding that the urinary concentration of 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid, an established biomarker for NPC, was also elevated in the NPC-affected individuals. These results suggest that a novel combination of plasma biomarkers, such as SPC and/or lysophingomyelin-509, and urinary bile acid metabolite could offer a promising platform for the diagnosis of NPC.

      PubDate: 2018-04-16T00:22:07Z
      DOI: 10.1016/j.ymgmr.2018.03.005
      Issue No: Vol. 15 (2018)
       
  • Causes of low muscle coenzyme-Q levels beyond primary
           coenzyme-Q-deficiency

    • Authors: Josef Finsterer; Sinda Zarrouk-Mahjoub
      Pages: 96 - 97
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub


      PubDate: 2018-04-16T00:22:07Z
      DOI: 10.1016/j.ymgmr.2018.03.006
      Issue No: Vol. 15 (2018)
       
  • Salivary serotonin does not correlate with central serotonin turnover in
           adult phenylketonuria (PKU) patients

    • Authors: Joseph Leung; Caroline Selvage; Taryn Bosdet; Jennifer Branov; Annie Rosen-Heath; Carole Bishop; Sandra Sirrs; Gabriella Horvath
      Pages: 100 - 105
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Joseph Leung, Caroline Selvage, Taryn Bosdet, Jennifer Branov, Annie Rosen-Heath, Carole Bishop, Sandra Sirrs, Gabriella Horvath
      Introduction Phenylketonuria (PKU) is an inborn error of metabolism associated with an increased risk of behavioural and mood disorders. There are currently no reliable markers for monitoring mood in PKU. The purpose of this study was to evaluate salivary serotonin as a possible non-invasive marker of long-term mood symptoms and central serotonin activity in patients with PKU. Methods 20 patients were recruited from our Adult Metabolic Diseases Clinic. Age, sex, plasma phenylalanine (Phe) level, DASS (Depression Anxiety Stress Scales) depression score, DASS anxiety score, BMI, salivary serotonin, salivary cortisol, 2-year average Phe, 2-year average tyrosine (Tyr), and 2-year average Phe:Tyr ratio were collected for each patient. Spearman's ρ correlation analysis was used to determine if there was any relationship between any of the parameters. Results There were positive correlations between DASS anxiety and DASS depression scores (Spearman's ρ = 0.8708, p-value < 0.0001), BMI and plasma Phe level (Spearman's ρ = 0.6228, p-value = .0034), and 2-year average Phe and BMI (Spearman's ρ = 0.5448, p-value = .0130). There was also a negative correlation between salivary cortisol and plasma Phe level (Spearman's ρ = −0.5018, p-value = .0338). All other correlations were not statistically significant. Conclusion Salivary serotonin does not correlate with peripheral phenylalanine levels, DASS depression scale scores, or DASS anxiety scale scores, implying that salivary serotonin does not reflect central serotonin turnover. Additionally, this study suggests that salivary serotonin is not a suitable marker for monitoring dietary control, mood, or anxiety in PKU. Synopsis Salivary serotonin does not correlate with peripheral phenylalanine levels, DASS depression scale scores, or DASS anxiety scale scores, suggesting that salivary serotonin is not a suitable marker for monitoring dietary control, mood, or anxiety in PKU.

      PubDate: 2018-04-16T00:22:07Z
      DOI: 10.1016/j.ymgmr.2018.03.008
      Issue No: Vol. 15 (2018)
       
  • Incidence of maple syrup urine disease, propionic acidemia, and
           methylmalonic aciduria from newborn screening data

    • Authors: Kimberly A. Chapman; Gwendolyn Gramer; Sarah Viall; Marshall L. Summar
      Pages: 106 - 109
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Kimberly A. Chapman, Gwendolyn Gramer, Sarah Viall, Marshall L. Summar
      Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened. Here newborn screening results from three world regions, state screening laboratories in the United States, a region in Germany and Kuwait provides new incidence numbers. Maple syrup urine disease incidence in the United States was calculated to be 1: 220219, in South-West Germany 1: 119573 (Germany nationwide 1:177978), and in Kuwait 1: 59426. Incidence of propionic acidemia alone is calculated to be 1: 242741 in the United States, 1: 284450 in South-West Germany (Germany nationwide 1:202617) and 1:59426 in Kuwait. Incidence of isolated methylmalonic aciduria alone is 1:69354 in the United States, 1:568901 in South-West Germany (Germany nationwide 1:159199) and 1: 19809 in Kuwait. In the United States several newborn screening laboratories combine their results for propionic acidemia and methylmalonic aciduria, and also include combined remethylation disorders in the respective category, resulting in an incidence of 1:50709. Combined evaluation of methylmalonic aciduria, propionic aciduria and combined remethylation disorders results in a similar incidence for Germany of 1:67539. This evaluation of newborn screening incidences reflects some population differences for three intoxication-type metabolic disorders. However, different sample sizes of the populations screened over different time periods, and differences in case definitions for methylmalonic acidurias have to be considered when interpreting these data.

      PubDate: 2018-04-16T00:22:07Z
      DOI: 10.1016/j.ymgmr.2018.03.011
      Issue No: Vol. 15 (2018)
       
  • Genetic and clinical characteristics of Filipino patients with Gaucher
           disease

    • Authors: Mary Anne D. Chiong; Marie Julianne C. Racoma; Mary Ann R. Abacan
      Pages: 110 - 115
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Mary Anne D. Chiong, Marie Julianne C. Racoma, Mary Ann R. Abacan
      Gaucher disease (GD) is a lysosomal storage disorder caused by the deficiency of the β-glucocerebrosidase enzyme due to disease causing mutations in the GBA1 (glucosidase beta acid) gene, leading to the abnormal accumulation of the lipid glucocerebroside in lysosomal macrophages. This is a review of the clinical features and molecular profiles of 14 Filipino patients with GD. Five patients presented with type 1 disease, two had type 2 GD and seven had type 3 GD. The age of onset for all types was between 1 and 2 years of age but there was a delay of 2.2 years from the time of symptom onset to confirmation of diagnosis. Hepatosplenomegaly, anemia and thrombocytopenia were present in most of the patients. Stunting was seen in 64.3% and bone abnormalities were present in 63.6%. The most common mutant allele detected in this cohort was L483P (previously L444P), followed by F252I, P358A and G241R. IVS2+1 G>A, N409S and G416S mutations were reported singularly. There were 3 patients who were found to have N131S mutations and one patient with D257V mutation, mutant alleles that have only been reported among the Filipinos to date. Except for N409S, the mutations found in this cohort were generally severe and were congruent with the severe phenotypes found in most patients. Of the 14 patients, only 6 were able to undergo enzyme replacement therapy which significantly improved the hematologic parameters and decreased the sizes of the liver and spleen but did not consistently improve the growth and skeletal abnormalities nor alleviate the neurological manifestations of our patients with GD. Improved monitoring through recommended modalities for assessments and tools for evaluation should be implemented in order to fully appreciate the severity of the disease and accuracy of the response to treatment.

      PubDate: 2018-04-16T00:22:07Z
      DOI: 10.1016/j.ymgmr.2018.03.010
      Issue No: Vol. 15 (2018)
       
  • Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience
           in 7 patients from the Spanish Morquio-A early access program

    • Authors: Guillem Pintos-Morell; Javier Blasco-Alonso; María L. Couce; Luís G. Gutiérrez-Solana; Encarna Guillén-Navarro; Mar O'Callaghan; Mireia del Toro
      Pages: 116 - 120
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Guillem Pintos-Morell, Javier Blasco-Alonso, María L. Couce, Luís G. Gutiérrez-Solana, Encarna Guillén-Navarro, Mar O'Callaghan, Mireia del Toro
      There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present the experience of seven pediatric MPS-IVA patients from the Spanish Morquio-A Early Access Program. Efficacy was evaluated based on the distance walked in the 6-min walking test (6-MWT) and the 3-min-stair-climb-test (3-MSCT) at baseline and after 8 months of ERT treatment. Additionally, urinary glycosaminoglycans were measured, and a molecular analysis of a GALNS mutation was performed. The health-related quality of life was evaluated using the EuroQoL (EQ)-5D-5 L. The distance walked according to the 6-MWT ranged from 0 to 325 m at baseline and increased to 12–300 m after 8 months with elosulfase alfa (the walked distance improved in all patients except one). An increase was observed for the two patients who had to use a wheelchair. Improvements were also observed for the 3-MSCT in four patients, whereas two patients showed no changes. Three patients showed an improvement in the EQ-VAS score, whereas the scores of three patients remained stable. Regarding urinary glycosaminoglycans measurements, an irregular response was observed. Our results showed overall improvement in endurance and functionality after 8 months of elosulfase alfa treatment in a heterogeneous subset of MPS IVA patients with severe clinical manifestations managed in a real-world setting.

      PubDate: 2018-04-16T00:22:07Z
      DOI: 10.1016/j.ymgmr.2018.03.009
      Issue No: Vol. 15 (2018)
       
  • Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD)
           

    • Authors: Kenji Watanabe; Kenji Yamada; Koji Sameshima; Seiji Yamaguchi
      Pages: 121 - 123
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Kenji Watanabe, Kenji Yamada, Koji Sameshima, Seiji Yamaguchi
      Introduction Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive mitochondrial fatty acid oxidation disorder and presents as hypoketotic hypoglycemia or rhabdomyolysis during childhood. l-Carnitine supplementation for patients with VLCAD deficiency is controversial. Herein, we describe two siblings with VLCAD deficiency who experienced more frequent episodes of rhabdomyolysis after l-carnitine supplementation. Case presentation Case 1 involved a 6-year-old boy who was diagnosed with VLCAD deficiency after repeated episodes of hypoketotic hypoglycemia at 3 years of age. He developed rhabdomyolysis more frequently after starting l-carnitine supplementation. Case 2 involved an 8-year-old boy, the elder brother of case 1, who was also diagnosed with VLCAD deficiency by sibling screening at the age of 5 years. He first developed rhabdomyolysis during a common cold after treatment with l-carnitine. Both patients had fewer rhabdomyolysis episodes after the cessation of l-carnitine supplementation. Conclusion Our cases suggest that l-carnitine supplementation can increase rhabdomyolysis attacks in patients with VLCAD deficiency.

      PubDate: 2018-04-16T00:22:07Z
      DOI: 10.1016/j.ymgmr.2018.03.007
      Issue No: Vol. 15 (2018)
       
  • A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses
           in an Indian family

    • Authors: Jyotsna Singh; P.K. Muhammad; Sweta Jain; Aradhna Mathur; Shaista Parveen; Aditi Joshi; Bharathram Uppili; C.V. Shaji; K.A. Kabeer; Suraj Menon; Mohammed Faruq
      Pages: 124 - 126
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Jyotsna Singh, P.K. Muhammad, Sweta Jain, Aradhna Mathur, Shaista Parveen, Aditi Joshi, Bharathram Uppili, C.V. Shaji, K.A. Kabeer, Suraj Menon, Mohammed Faruq
      Mucopolysaccharidoses (MPS) type III also termed as Sanfillipo syndrome, involves defect in enzymes required for degradation of heparan sulphate. We report a clinical case of MPS-III later followed by genetic investigation for MPS-III genes SGSH, NAGLU, HGSNAT and GNS. It allowed us to identify a novel and likely pathogenic variant p. G205R in SGSH. Protein based Inslico prediction and protein modelling suggests aberration of helical structure of SGSH protein and reduced binding affinity for its substrate.

      PubDate: 2018-04-25T04:51:08Z
      DOI: 10.1016/j.ymgmr.2018.04.003
      Issue No: Vol. 15 (2018)
       
  • Vaccination triggering onset of m.8993T &gt; G associated
           Leigh syndrome

    • Authors: Josef Finsterer; Sinda Zarrouk-Mahjoub
      Pages: 127 - 128
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub


      PubDate: 2018-05-31T15:38:50Z
      DOI: 10.1016/j.ymgmr.2018.04.001
      Issue No: Vol. 15 (2018)
       
  • Retrospective analysis of small cohorts does not support therapeutic
           efficacy of l-arginine

    • Authors: John Shoffner
      First page: 129
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): John Shoffner


      PubDate: 2018-05-31T15:38:50Z
      DOI: 10.1016/j.ymgmr.2018.04.002
      Issue No: Vol. 15 (2018)
       
  • Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with
           mitochondrial disorders treated with oral l-carnitine

    • Authors: H.D. Vallance; A. Koochin; J. Branov; A. Rosen-Heath; T. Bosdet; Z. Wang; S.L. Hazen; G. Horvath
      Pages: 130 - 133
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): H.D. Vallance, A. Koochin, J. Branov, A. Rosen-Heath, T. Bosdet, Z. Wang, S.L. Hazen, G. Horvath
      Oral supplementation with l-carnitine is a common therapeutic modality for mitochondrial disorders despite limited evidence of efficacy. Recently, a number of studies have demonstrated that a gut microbiota-dependent metabolite of l-carnitine, trimethylamine oxide (TMAO), is an independent and dose-dependent risk factor for cardiovascular disease (CVD). Given the limited data demonstrating efficacy with oral l-carnitine therapy and the newly raised questions of potential harm, we assessed plasma TMAO levels in patients with mitochondrial disease with and without oral l-carnitine supplementation. Nine subjects were recruited and completed the study. Eight out of 9 subjects at baseline had plasma TMAO concentrations <97.5th percentile (<15.5 μM). One subject with stage 3 renal disease, had marked elevation in plasma TMAO (pre 33.98 μm versus post 101.6 μm). Following at least 3 months of l-carnitine supplementation (1000 mg per day), plasma TMAO levels were markedly increased in 7out of 9 subjects; overall, plasma TMAO significantly increased 11.8-fold (p < 0.001) from a baseline median level of 3.54 μm (interquartile range (IQR) 2.55–8.72) to 43.26 (IQR 23.99–56.04) post supplementation. The results of this study demonstrate that chronic oral l-carnitine supplementation markedly increases plasma TMAO levels in subjects with mitochondrial disorders. Further studies to evaluate both the efficacy and long term safety of oral l-carnitine supplementation for the treatment of mitochondrial disorders are warranted.

      PubDate: 2018-05-31T15:38:50Z
      DOI: 10.1016/j.ymgmr.2018.04.005
      Issue No: Vol. 15 (2018)
       
  • Phenotypic spectrum of maternally inherited Leigh Syndrome associated with
           the m.8993T>G variant

    • Authors: Andrea Gropman; Anne Chiaramello
      First page: 134
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Andrea Gropman, Anne Chiaramello


      PubDate: 2018-05-31T15:38:50Z
      DOI: 10.1016/j.ymgmr.2018.04.004
      Issue No: Vol. 15 (2018)
       
  • Controversies on the potential therapeutic use of rapamycin for treating a
           lysosomal cholesterol storage disease

    • Authors: Juan F. Calderón; Andrés D. Klein
      Pages: 135 - 136
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Juan F. Calderón, Andrés D. Klein


      PubDate: 2018-05-31T15:38:50Z
      DOI: 10.1016/j.ymgmr.2018.05.001
      Issue No: Vol. 15 (2018)
       
  • Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in
           Russia: Molecular and clinical characterization

    • Authors: Elena Voskoboeva; Alla Semyachkina; Maria Yablonskaya; Ekaterina Nikolaeva
      Pages: 47 - 54
      Abstract: Publication date: March 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 14
      Author(s): Elena Voskoboeva, Alla Semyachkina, Maria Yablonskaya, Ekaterina Nikolaeva
      We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the CBS gene for thirteen patients from eleven unrelated genealogies. All patients except for the two were compound heterozygotes for the mutations detected. The most frequent mutation in the cohort investigated was splice mutation IVS11-2a->c. We detected one new nonsense mutation, one new missense-mutation and three novel small deletions. We also report the clinical case of the B6-responsive patient genotyped as Ile278Thr/Cys109Arg.

      PubDate: 2018-01-03T23:47:00Z
      DOI: 10.1016/j.ymgmr.2017.11.001
      Issue No: Vol. 14 (2018)
       
  • Mildly elevated succinylacetone and normal liver function in compound
           heterozygotes with pathogenic and pseudodeficient FAH alleles

    • Authors: Hao Yang; Francis Rossignol; Denis Cyr; Rachel Laframboise; Shu Pei Wang; Jean-François Soucy; Marie-Thérèse Berthier; Yves Giguère; Paula J. Waters; Grant A. Mitchell
      Pages: 55 - 58
      Abstract: Publication date: March 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 14
      Author(s): Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell
      Background A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacetoacetate hydrolase. HT1 newborns are usually clinically asymptomatic, but have coagulation abnormalities revealing liver dysfunction. Treatment with nitisinone (NTBC) plus dietary restriction of tyrosine and phenylalanine prevents the complications of HT1 Observations Two newborns screened positive for SA but had normal coagulation testing. Plasma and urine SA levels were 3–5 fold above the reference range but were markedly lower than in typical HT1. Neither individual received nitisinone or dietary therapy. They remain clinically normal, currently aged 9 and 15years. Each was a compound heterozygote, having a splicing variant in trans with a prevalent “pseudodeficient” FAH allele, c.1021C>T (p.Arg341Trp), which confers partial FAH activity. All newborns identified with mild hypersuccinylacetonemia in Québec have had genetic deficiencies of tyrosine degradation: either deficiency of the enzyme preceding FAH, maleylacetoacetate isomerase, or partial deficiency of FAH itself. Conclusion Compound heterozygotes for c.1021C>T (p.Arg341Trp) and a severely deficient FAH allele have mild hypersuccinylacetonemia and to date they have remained asymptomatic without treatment. It is important to determine the long term outcome of such individuals.

      PubDate: 2018-01-03T23:47:00Z
      DOI: 10.1016/j.ymgmr.2017.12.002
      Issue No: Vol. 14 (2018)
       
  • Serendipitous effects of β-cyclodextrin on murine model of Krabbe
           disease

    • Authors: Asaka Katabuchi; Vivian Godoy Priya Shil Ann Moser Gustavo H.B.
      Abstract: Publication date: June 2018
      Source:Molecular Genetics and Metabolism Reports, Volume 15
      Author(s): Asaka U. Katabuchi, Vivian Godoy, Priya Shil, Ann Moser, Gustavo H.B. Maegawa


      PubDate: 2018-04-16T00:22:07Z
       
 
 
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