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Journal of Inherited Metabolic Disease

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https://www.readbyqxmd.com/read/29350350/biochemical-changes-and-clinical-outcomes-in-34-patients-with-classic-galactosemia
#1
Tatiana Yuzyuk, Krista Viau, Ashley Andrews, Marzia Pasquali, Nicola Longo
Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early initiation of a galactose-restricted diet can prevent or resolve neonatal complications. Despite therapy, patients often experience long-term complications including speech impairment, learning disabilities, and premature ovarian insufficiency in females. This study evaluates clinical outcomes in 34 galactosemia patients with markedly reduced GALT activity and compares outcomes between patients with different levels of mean galactose-1-phosphate in red blood cells (GAL1P) using logistic regression: group 1 (n = 13) GAL1P ≤1...
January 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29340838/text-based-phenotypic-profiles-incorporating-biochemical-phenotypes-of-inborn-errors-of-metabolism-improve-phenomics-based-diagnosis
#2
Jessica J Y Lee, Michael M Gottlieb, Jake Lever, Steven J M Jones, Nenad Blau, Clara D M van Karnebeek, Wyeth W Wasserman
Phenomics is the comprehensive study of phenotypes at every level of biology: from metabolites to organisms. With high throughput technologies increasing the scope of biological discoveries, the field of phenomics has been developing rapid and precise methods to collect, catalog, and analyze phenotypes. Such methods have allowed phenotypic data to be widely used in medical applications, from assisting clinical diagnoses to prioritizing genomic diagnoses. To channel the benefits of phenomics into the field of inborn errors of metabolism (IEM), we have recently launched IEMbase, an expert-curated knowledgebase of IEM and their disease-characterizing phenotypes...
January 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29335813/organic-acidurias-in-adults-late-complications-and-management
#3
Ali Tunç Tuncel, Nikolas Boy, Marina A Morath, Friederike Hörster, Ulrike Mütze, Stefan Kölker
Organic acidurias (synonym, organic acid disorders, OADs) are a heterogenous group of inherited metabolic diseases delineated with the implementation of gas chromatography/mass spectrometry in metabolic laboratories starting in the 1960s and 1970s. Biochemically, OADs are characterized by accumulation of mono-, di- and/or tricarboxylic acids ("organic acids") and corresponding coenzyme A, carnitine and/or glycine esters, some of which are considered toxic at high concentrations. Clinically, disease onset is variable, however, affected individuals may already present during the newborn period with life-threatening acute metabolic crises and acute multi-organ failure...
January 15, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29330779/correction-to-age-at-disease-onset-and-peak-ammonium-level-rather-than-interventional-variables-predict-the-neurological-outcome-in-urea-cycle-disorders
#4
Roland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, Elisa Leão Teles, Carlo Dionisi-Vici, Anaïs Brassier, Alberto B Burlina, Peter Burgard, Elisenda Cortès-Saladelafont, Dries Dobbelaere, Maria L Couce, Jolanta Sykut-Cegielska, Johannes Häberle, Allan M Lund, Anupam Chakrapani, Manuel Schiff, John H Walter, Jiri Zeman, Roshni Vara, Stefan Kölker
Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly.
January 12, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29318410/flux-analysis-of-inborn-errors-of-metabolism
#5
D-J Reijngoud
Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites through the different metabolic pathways in this new steady state of the reprogrammed metabolism. Stable isotope technology is best suited to study this. In this review the progress made in characterizing the altered metabolism will be presented...
January 9, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29305734/olipudase-alfa-for-treatment-of-acid-sphingomyelinase-deficiency-asmd-safety-and-efficacy-in-adults-treated-for-30-months
#6
Melissa P Wasserstein, George A Diaz, Robin H Lachmann, Marie-Hélène Jouvin, Indrani Nandy, Allena J Ji, Ana Cristina Puga
Olipudase alfa, a recombinant human acid sphingomyelinase (ASM), is an enzyme replacement therapy for the treatment of nonneurologic manifestations of acid sphingomyelinase deficiency (ASMD). This ongoing, open-label, long-term study (NCT02004704) assessed safety and efficacy of olipudase alfa following 30 months of treatment in five adult patients with ASMD. There were no deaths, serious or severe events, or discontinuations during 30 months of treatment. The majority of adverse events were mild and included headache, nausea, and abdominal pain...
January 5, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29294191/chemical-glycomics-enrichment-imaging-the-recycling-of-sialic-acid-in-living-cells
#7
Pierre André Gilormini, Cédric Lion, Dorothée Vicogne, Yann Guérardel, François Foulquier, Christophe Biot
The development of metabolic oligosaccharide engineering (MOE) over the past two decades enabled the bioimaging studies of glycosylation processes in physio-pathological contexts. Herein, we successfully applied the chemical reporter strategy to image the fate of sialylated glycoconjugates in healthy and sialin-deficient patient fibroblasts. This chemical glycomics enrichment is a powerful tool for tracking sialylated glycoconjugates and probing lysosomal recycling capacities. Thus, such strategies appear fundamental for the characterization of lysosomal storage diseases...
January 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29294190/globotriaosylsphingosine-lyso-gb3-as-a-biomarker-for-cardiac-variant-n215s-fabry-disease
#8
Fahad J Alharbi, Shanat Baig, Christiane Auray-Blais, Michel Boutin, Douglas G Ward, Nigel Wheeldon, Rick Steed, Charlotte Dawson, Derralynn Hughes, Tarekegn Geberhiwot
Fabry disease (FD) is a multi-systemic X-linked lysosomal disorder caused by the deficient activity of α-galactosidase-A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of FD, with a late onset cardiac phenotype. Consensus guidelines acknowledged the use of globotriaosylsphingosine (Lyso-Gb3) as a diagnostic marker for classical FD but its utility for cardiac variant FD is not clear. We aim to characterize the clinical features and evaluate the diagnostic accuracy of plasma and urinary Lyso-Gb3 levels in N215S cardiac variant FD patients...
January 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29247329/understanding-childhood-diabetes-mellitus-new-pathophysiological-aspects
#9
REVIEW
Juergen Grulich-Henn, Daniela Klose
Diabetes mellitus (DM) is not a single disease, but several pathophysiological conditions where synthesis, release, and/or action of insulin are disturbed. A progressive autoimmune/autoinflammatory destruction of islet cells is still considered the main pathophysiological event in the development of T1DM, but there is evidence that T1DM itself is a heterogeneous disease. More than 50 gene regions are closely associated with T1DM and a variety of epigenetic factors and metabolic patterns have been characterized, which may play a role in the development of T1DM...
December 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29238895/an-overview-of-combined-d-2-and-l-2-hydroxyglutaric-aciduria-functional-analysis-of-cic-variants
#10
Ana Pop, Monique Williams, Eduard A Struys, Magnus Monné, Erwin E W Jansen, Anna De Grassi, Warsha A Kanhai, Pasquale Scarcia, Matilde R Fernandez Ojeda, Vito Porcelli, Silvy J M van Dooren, Pascal Lennertz, Benjamin Nota, Jose E Abdenur, David Coman, Anibh Martin Das, Areeg El-Gharbawy, Jean-Marc Nuoffer, Branka Polic, René Santer, Natalie Weinhold, Britton Zuccarelli, Ferdinando Palmieri, Luigi Palmieri, Gajja S Salomons
Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder, usually lethal in the first years of life. Autosomal recessive mutations in the SLC25A1 gene, which encodes the mitochondrial citrate carrier (CIC), were previously detected in patients affected with combined D/L-2-HGA. We showed that transfection of deficient fibroblasts with wild-type SLC25A1 restored citrate efflux and decreased intracellular 2-hydroxyglutarate levels, confirming that deficient CIC is the cause of D/L-2-HGA...
December 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29234995/correction-to-impact-of-age-at-onset-and-newborn-screening-on-outcome-in-organic-acidurias
#11
Jana Heringer, Vassili Valayannopoulos, Allan M Lund, Frits A Wijburg, Peter Freisinger, Ivo Barić, Matthias R Baumgartner, Peter Burgard, Alberto B Burlina, Kimberly A Chapman, Elisenda Cortès I Saladelafont, Daniela Karall, Chris Mühlhausen, Victoria Riches, Manuel Schiff, Jolanta Sykut-Cegielska, John H Walter, Jiri Zeman, Brigitte Chabrol, Stefan Kölker
Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly.
December 12, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29230604/do-inborn-errors-of-metabolism-confer-or-impede-the-risk-of-diabetes
#12
EDITORIAL
Verena Peters, Jerry Vockley
No abstract text is available yet for this article.
December 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29230603/amp-activated-protein-kinase-activation-in-mediating-phenylalanine-induced-neurotoxicity-in-experimental-models-of-phenylketonuria
#13
Lihua Lu, Xiaoming Ben, Lingling Xiao, Min Peng, Yongjun Zhang
Phenylketonuria (PKU), one of the most prevalent autosomal recessive disorders of amino acid metabolism, is characterized by abnormal accumulation of phenylalanine, which can lead to intellectual disability. The main pathologic changes in the central nervous system of untreated phenylketonuric patients are reductions in the number of axons, dendrites, and synapses in the brain. Such alterations are thought to be mainly associated with the toxic effects caused by phenylalanine. However, the underlying molecular mechanisms have not been fully elucidated...
December 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29209936/plasma-lipidomics-as-a-diagnostic-tool-for-peroxisomal-disorders
#14
Katharina Herzog, Mia L Pras-Raves, Sacha Ferdinandusse, Martin A T Vervaart, Angela C M Luyf, Antoine H C van Kampen, Ronald J A Wanders, Hans R Waterham, Frédéric M Vaz
Peroxisomes are ubiquitous cell organelles that play an important role in lipid metabolism. Accordingly, peroxisomal disorders, including the peroxisome biogenesis disorders and peroxisomal single-enzyme deficiencies, are associated with aberrant lipid metabolism. Lipidomics is an emerging tool for diagnosis, disease-monitoring, identifying lipid biomarkers, and studying the underlying pathophysiology in disorders of lipid metabolism. In this study, we demonstrate the potential of lipidomics for the diagnosis of peroxisomal disorders using plasma samples from patients with different types of peroxisomal disorders...
December 5, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29170874/daily-variation-of-ntbc-and-its-relation-to-succinylacetone-in-tyrosinemia-type-1-patients-comparing-a-single-dose-to-two-doses-a-day
#15
Nienke S Kienstra, Hannah E van Reemst, Willem G van Ginkel, Anne Daly, Esther van Dam, Anita MacDonald, Johannes G M Burgerhof, Pim de Blaauw, Patrick J McKiernan, M Rebecca Heiner-Fokkema, Francjan J van Spronsen
INTRODUCTION: In hereditary tyrosinemia type 1 (HT1) patients, the dose of NTBC that leads to the absence of toxic metabolites such as succinylacetone (SA) is still unknown. Therefore, the aims of this study were to investigate the variation and concentrations of 2-(2-nitro-4-trifluormethyl-benzyl)-1,3-cyclohexanedione (NTBC) during the day in relation to the detection of SA, while comparing different dosing regimens. METHODS: All patients were treated with NTBC (mean 1...
November 23, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29168031/neural-cells-generated-from-human-induced-pluripotent-stem-cells-as-a-model-of-cns-involvement-in-mucopolysaccharidosis-type-ii
#16
Jitka Rybová, Jana Ledvinová, Jakub Sikora, Ladislav Kuchař, Robert Dobrovolný
Mucopolysaccharidosis type II (MPSII) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene (IDS, Xq28). MPSII is characterized by skeletal deformities, hearing loss, airway obstruction, hepatosplenomegaly, cardiac valvular disease, and progressive neurological impairment. At the cellular level, IDS deficiency leads to lysosomal storage of glycosaminoglycans (GAGs), dominated by accumulation of dermatan and heparan sulfates. Human induced pluripotent stem cells (iPSC) represent an alternative system that complements the available MPSII murine model...
November 22, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29159707/propionyl-coa-carboxylase-pcca-1-and-pccb-1-gene-deletions-in-caenorhabditis-elegans-globally-impair-mitochondrial-energy-metabolism
#17
Kimberly A Chapman, Julian Ostrovsky, Meera Rao, Stephen D Dingley, Erzsebet Polyak, Marc Yudkoff, Rui Xiao, Michael J Bennett, Marni J Falk
Propionic acidemia (PA) is a classical inborn error of metabolism with high morbidity that results from the inability of the propionyl-CoA carboxylase (PCC) enzyme to convert propionyl-CoA to methylmalonyl-CoA. PA is inherited in an autosomal recessive fashion due to functional loss of both alleles of either PCCA or PCCB. These genes are highly conserved across evolutionarily diverse species and share extensive similarity with pcca-1 and pccb-1 in the nematode, Caenorhabditis elegans. Here, we report the global metabolic effects of deletion in a single PCC gene, either pcca-1 or pccb-1, in C...
November 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#18
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29139026/structural-elucidation-of-novel-biomarkers-of-known-metabolic-disorders-based-on-multistage-fragmentation-mass-spectra
#19
Jan Václavík, Karlien L M Coene, Ivo Vrobel, Lukáš Najdekr, David Friedecký, Radana Karlíková, Lucie Mádrová, Aleksanteri Petsalo, Udo F H Engelke, Annemiek van Wegberg, Leo A J Kluijtmans, Tomáš Adam, Ron A Wevers
Specific diagnostic markers are the key to effective diagnosis and treatment of inborn errors of metabolism (IEM). Untargeted metabolomics allows for the identification of potential novel diagnostic biomarkers. Current separation techniques coupled to high-resolution mass spectrometry provide a powerful tool for structural elucidation of unknown compounds in complex biological matrices. This is a proof-of-concept study testing this methodology to determine the molecular structure of as yet uncharacterized m/z signals that were significantly increased in plasma samples from patients with phenylketonuria and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency...
November 14, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29139025/coagulopathy-in-zellweger-spectrum-disorders-a-role-for-vitamin-k
#20
Sara Zeynelabidin, Femke C C Klouwer, Joost C M Meijers, Monique H Suijker, Marc Engelen, Bwee Tien Poll-The, C Heleen van Ommen
INTRODUCTION: Zellweger spectrum disorders (ZSDs) are caused by an impairment of peroxisome biogenesis, resulting in multiple metabolic abnormalities. This leads to a range of symptoms, including hepatic dysfunction and coagulopathy. This study evaluated the incidence and severity of coagulopathy and the effect of vitamin K supplementation orally and IV in ZSD. METHODS: Data were retrospectively retrieved from the medical records of 30 ZSD patients to study coagulopathy and the effect of vitamin K orally on proteins induced by vitamin K absence (PIVKA-II) levels...
November 14, 2017: Journal of Inherited Metabolic Disease
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