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Molecular Genetics and Metabolism Reports

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https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#1
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28920014/plasma-fibroblast-growth-factor-21-levels-in-patients-with-inborn-errors-of-metabolism
#2
Brian Kirmse, Juan Cabrerra-Luque, Omar Ayyub, Kristina Cusmano, Kimberly Chapman, Marshall Summar
Fibroblast growth factor-21 (FGF21) levels are elevated in patients with primary mitochondrial disorders but have not been studied in patients with inborn errors of metabolism (IEM) known to have secondary mitochondrial dysfunction. We measured plasma FGF21 by ELISA in patients with and without IEM. FGF21 levels were higher in patients with IEM compared to without IEM (370 pg/dL vs. 0-65 pg/dL). Further study of FGF21 as a biomarker in IEM is warranted.
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28831385/the-prevalence-of-diseases-caused-by-lysosome-related-genes-in-a-cohort-of-undiagnosed-patients
#3
Filippo Pinto Vairo, Nicole J Boczek, Margot A Cousin, Charu Kaiwar, Patrick R Blackburn, Erin Conboy, Brendan C Lanpher, Ralitza H Gavrilova, Pavel N Pichurin, Konstantinos N Lazaridis, Dusica Babovic-Vuksanovic, Eric W Klee
Lysosomal diseases (LD) comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations. The estimated combined incidence of LD is between 1 in 4000 to 1 in 13,000 live births, with recent data from pilot newborn screening studies showing even higher incidence. We aimed to determine the prevalence of the classical LD and other diseases caused by lysosome-related genes in our cohort of diagnostic odyssey patients...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28819586/the-cardiac-glycoside-convallatoxin-inhibits-the-growth-of-colorectal-cancer-cells-in-a-p53-independent-manner
#4
Sarah E Anderson, Christopher E Barton
Cardiac glycosides are plant-derived molecules that have shown antiproliferative properties against cancer cells, though the mechanism of action is not completely understood. We show that one cardiac glycoside, convallatoxin, presents antiproliferative effects against colorectal cancer cells in culture and that the resulting cell death is independent of the p53 tumor suppressor. Our data suggest that convallatoxin may be useful in the treatment of cancers that harbor inactivating mutations in the p53 signaling pathway...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28819585/costs-for-mitochondrial-medicine-will-remain-high-as-long-as-mitochondrial-disorders-are-misdiagnosed
#5
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28794993/limitations-of-galactose-therapy-in-phosphoglucomutase-1-deficiency
#6
Kristine Nolting, Julien H Park, Laura C Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
INTRODUCTION: Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and growth retardation. Oral galactose supplementation at a dosage of 1 g per kg body weight per day is regarded as the therapy of choice. RESULTS: We report on a patient with a novel disease causing mutation, who was treated for 1...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28794992/mitochondrial-multiorgan-disorder-syndrome-mimods-due-to-a-compound-heterozygous-mutation-in-the-acad9-gene
#7
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28794991/correspondence-to-heterozygous-mutation-in-the-x-chromosomal-ndufa1-gene-in-a-girl-with-complex-i-deficiency-and-a-novel-ndufa1-mutation-leads-to-progressive-mitochondrial-complex-i-specific-neurodegenerative-disease
#8
https://www.readbyqxmd.com/read/28765812/role-of-ampd2-in-impaired-glucose-tolerance-induced-by-high-fructose-diet
#9
Athanasius Wrin Hudoyo, Tetsuaki Hirase, Andreas Tandelillin, Masahiko Honda, Manabu Shirai, Jidong Cheng, Hiroko Morisaki, Takayuki Morisaki
A high intake of products containing fructose is known to mediate insulin resistance. In the liver, AMPD2, an isoform of AMPD, has important glucose metabolic homeostasis functions including maintenance of AMP-activated protein kinase (AMPK). We speculated that AMPD2 induces impaired glucose tolerance in individuals who consume a high-fructose diet. We gave either a normal-chow (NCD) or high-fructose (HFrD) diet for 40 days to 8-week-old male wild-type (WT) and Ampd2 -/- homozygote (A2 -/-) C57BL/6 mice...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28761815/a-pilot-study-on-using-rapamycin-carrying-synthetic-vaccine-particles-svp-in-conjunction-with-enzyme-replacement-therapy-to-induce-immune-tolerance-in-pompe-disease
#10
Han-Hyuk Lim, Haiqing Yi, Takashi K Kishimoto, Fengqin Gao, Baodong Sun, Priya S Kishnani
A major obstacle to enzyme replacement therapy (ERT) with recombinant human acid-α-glucosidase (rhGAA) for Pompe disease is the development of high titers of anti-rhGAA antibodies in a subset of patients, which often leads to a loss of treatment efficacy. In an effort to induce sustained immune tolerance to rhGAA, we supplemented the rhGAA therapy with a weekly intravenous injection of synthetic vaccine particles carrying rapamycin (SVP-Rapa) during the first 3 weeks of a 12-week course of ERT in GAA-KO mice, and compared this with three intraperitoneal injections of methotrexate (MTX) per week for the first 3 weeks...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28761814/a-novel-nonsense-atp7a-pathogenic-variant-in-a-family-exhibiting-a-variable-occipital-horn-syndrome-phenotype
#11
Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani
We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel ATP7A pathogenic variant (c.4222A > T, p.(Lys1408*)), representing the first nonsense variant and the second late truncation causing OHS rather than classic Menkes disease, was found to segregate in the family. The predicted maintenance of transmembrane domains is consistent with a residual protein activity, which may explain the mild clinical presentation.
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28748147/confirmation-that-mat1a-p-ala259val-mutation-causes-autosomal-dominant-hypermethioninemia
#13
Michael J Muriello, Sarah Viall, Teodoro Bottiglieri, Kristina Cusmano-Ozog, Carlos R Ferreira
Methionine adenosyltransferase (MAT) I/III deficiency is an inborn error of metabolism caused by mutations in MAT1A, encoding the catalytic subunit of MAT responsible for the synthesis of S-adenosylmethionine, and is characterized by persistent hypermethioninemia. While historically considered a recessive disorder, a milder autosomal dominant form of MAT I/III deficiency occurs, though only the most common mutation p.Arg264His has ample evidence to prove dominant inheritance. We report a case of hypermethioninemia caused by the p...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28736720/mitochondrial-cardioencephalopathy-due-to-a-coq4-mutation
#14
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28736719/lipid-profile-in-adult-patients-with-fabry-disease-ten-year-follow-up
#15
Karolina M Stepien, Chris J Hendriksz
BACKGROUND: Fabry disease, an X-linked genetic condition, results from alpha-galactosidase deficiency and increased accumulation of glycosphingolipids in cardiovascular tissues. Clinical manifestation includes vasculature associated complications. Hyperlipidaemia is one of the cardiovascular risk factors however it has never been well defined in Fabry disease. Enzyme Replacement Therapy (ERT) is available but its effect on serum cholesterol is unknown. The aim of this project was to assess the influence of long-term ERT on lipid profile in a large cohort of adult patients with Fabry disease...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28736718/type-3-gaucher-disease-diagnostic-in-adulthood
#16
Charles Detollenaere, Monia Benghergbia, Anaïs Brassier, Thierry Billette de Villemeur, Daniel Amsallem, Marc Berger, Jérôme Stirnemann, Nadia Belmatoug, Christian Rose
No abstract text is available yet for this article.
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28725571/application-of-a-diagnostic-methodology-by-quantification-of-26-0-lysophosphatidylcholine-in-dried-blood-spots-for-japanese-newborn-screening-of-x-linked-adrenoleukodystrophy
#17
Chen Wu, Takeo Iwamoto, Junko Igarashi, Takashi Miyajima, Mohammad Arif Hossain, Hiroko Yanagisawa, Keiko Akiyama, Haruo Shintaku, Yoshikatsu Eto
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease that results in the accumulation of very long chain fatty acids (VLCFA) in plasma and all tissues. Recent studies regarding cerebral X-ALD (CALD) treatment emphasize the importance of its early diagnosis. 26:0 lysophosphatidylcholine (LysoPC) is a sensitive biomarker for newborn screening of X-ALD, while its application for Japanese DBS is unclear. Therefore, we evaluated the feasibility of 20:0 LysoPC and 24:0 LysoPC along with 26:0 LysoPC for diagnosing X-ALD in a cohort of newborns (n = 604), healthy adults (n = 50) and patients (n = 4)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28725570/enzyme-activities-of-%C3%AE-glucosidase-in-japanese-neonates-with-pseudodeficiency-alleles
#18
Ryuichi Mashima, Torayuki Okuyama
Lysosomal storage disorders (LSDs) are caused by defective enzyme activities in lysosomes, characterized by the accumulation of sphingolipids, glycolipids, oligosaccharides, mucopolysaccharides, the oxidation products of cholesterol, and other biological substances. A growing number of clinical studies have suggested the enhanced efficacy of existing therapies, including enzyme replacement therapy, which is effective when it is initiated during the presymptomatic period. Thus, the identification of disease-affected individuals by newborn screening has been considered an effective platform...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28725569/psychiatric-adult-onset-of-urea-cycle-disorders-a-case-series
#19
Adrien Bigot, Paul Brunault, Christian Lavigne, François Feillet, Sylvie Odent, Elsa Kaphan, Christel Thauvin, Vanessa Leguy, Pierre Broué, Michel C Tchan, François Maillot
Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could suggest this diagnosis in such a situation, and to determine which tests should be conducted. A survey of psychiatric symptoms occurring in teenagers or adults with UCD was conducted in 2010 among clinicians involved in the French society for the study of inborn errors of metabolism (SFEIM)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28725568/a-compound-heterozygote-case-of-isolated-sulfite-oxidase-deficiency
#20
Daniel Brumaru, Eric Guerin, Anne-Claire Voegeli, Didier Eyer, Michel Maitre
We report an isolated sulfite oxidase deficiency in the first child boy of a non-consanguineous Caucasian family. He's a compound heterozygote for the sulfite oxidase gene, presenting low cystine, undetectable homocysteine and normal uric acid blood concentrations and undetectable sulfite oxidase activity in his cultured fibroblasts. Both mutations are not reported yet. The clinical presentation was typical and severe, with generalized status epilepticus and premature death.
September 2017: Molecular Genetics and Metabolism Reports
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