Mutations In The AUH Gene Cause 3‐methylglutaconic Aciduria Type I
Below is result for Mutations In The AUH Gene Cause 3‐methylglutaconic Aciduria Type I in PDF format. You can download or read online all document for free, but please respect copyrighted ebooks. This site does not host PDF files, all document are the property of their respective owners.
Joshua Hellmann Foundation - Newborn Metabolic Screening Program
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. Hum Mutat 2000;16: 446. 13. Dekker J, Eppink MH, van Zwieten R, de Rijk T, Remacha AF, Law LK, Li AM, Cheung KL, van Berkel WJ, Roos D. Seven new mutations in the NADH-cytochrome b5 reductase gene leading to methemoglobinemia type I. Blood 2001;97(4):1106
3-Methylglutaconic Aciduria Type I in a Boy With Fever
3-Methylglutaconic aciduria type I in a boy with fever-associated seizures. Pediatr Neurol 2004;30:213-215. Introduction 3-Methylglutaconyl-coenzyme A (3-MG-CoA) hy-dratase deficiency or 3-methylglutaconic aciduria type I (MGA1, OMIM 250950) is a rare defect of l-leucine catabolism caused by mutations in the AUH gene (encod-
About PrenatalScreen Prenatal Test PrenatalScreen 744 genes
Gene Mutation Database (HGMD), updated on the date of the sample collection, will be reported. Moreover, in compliance with the indications of the American College of Medical Genetics (ACMG), only mutations with a Minor Allele Frequency (MAF) <5% (1000 Genomes Project) are
Am. J. Hum. Genet. 71:1463 1466, 2002 Report 3
3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH Lodewijk IJlst,1,* Ference J. Loupatty,1,* Jos P. N. Ruiter,1 Marinus Duran,1 Willy Lehnert,3 and Ronald J. A. Wanders1,2 Departments of 1Clinical Chemistry and 2Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam,
WHAT IS 3-METHYLGLUTACONIC HOW ARE THE 3-MGA-URIAS CLASSIFIED?
can determine the enzyme AUH deficiency or the AUH gene mutations. Absence of 3-OH-isovaleric acid, and on the basis on clinical picture, we can perform the mutational study of the other genes known to date. Failure to find mutations in any of them, the disease is classified as NOS-3-MGA-uria (from
A Rare Homozygous Deletion Mutation of TMEM70 Gene Associated
A Rare Homozygous Deletion Mutation of TMEM70 Gene Associated with 3-Methylglutaconic Aciduria and Cataract in A Saudi Patient Citation: Maha Alotaibi., et al. A Rare Homozygous Deletion Mutation of TMEM70 Gene Associated with 3-Methylglutaconic Aciduria and Cataract in A Saudi Patient EC Neurology 4.2 (2016): 48-52.
V E R Ö F F E N T L I C H U N G E N - Heidelberg University
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I Hum Mutat 21: 401 407, 2003 29.) Casals N, Gomez-Puertas P, Pié J, Mir C, Roca R, Puisac B, Aledo R, Clotet J, Menao S, Serra D, Asins G, Till J, Elias-Jones AC, Cresto C, Chamoles NA, Abdenur JE, Mayatepek E, Besley G, Valencia A, Hegardt FG:
Mutations in the AUH gene cause 3â methylglutaconic aciduria
Mutations in the AUH Gene Cause 3-Methylglutaconic Aciduria Type I T.B. Nga Ly,1,2 Verena Peters,1 K. Michael Gibson,3 Michael Liesert,4 Wolfgang Buckel,4 Bridget Wilcken,5 Kevin Carpenter,5 Regina Ensenauer,6 Georg F. Hoffmann,1 Matthias Mack,7 and Johannes Zschocke2,1n
The most comprehensive and accurate newborn screening test
Methylmalonic aciduria, mut(0) type Standard Panel NADK2 2,4-dienoyl-CoA reductase deficiency Standard Panel NAGS N-acetylglutamate synthase deficiency Standard Panel OAT Gyrate atrophy of choroid and retina with or without ornithinemia Standard Panel OPA3 3-methylglutaconic aciduria, type III Standard Panel OTC
Child Neurology Open Volume 6: 1-8 De Novo Interstitial
Mutations in the SECIBP2 and AUH genes are associated with autosomal recessive conditions: an abnormal thyroid metabolism disorder and type 1 methylglutaconic aciduria, respectively.8 10 The NTRK2 (neurotrophic receptor tyrosine kinase 2) gene localizes to chromosome 9q21.33 and contains 23 exons.
mga type ref - CORE
GF, Mack M, Zschocke J. Mutations in the AUH gene cause 3-methylglutaconic aciduria, Hum Mutat 2003; 21(4): 401-407. 44. Mazzocco MM, Kelley RI. Preliminary evidence for a cognitive phenotype in barth syndrome, Am J Med Genet 2001; 102(4): 372-378. 45.
3-METHYLGLUTACONIC ACIDURIA TYPE III (MGA TYPE III
Hoffmann GF, Mack M, Zschocke J. Mutations in the AUH gene cause 3-methylglutaconic aciduria, Hum Mutat 2003; 21(4): 401-407. 43. Mazzocco MM, Kelley RI. Preliminary evidence for a cognitive phenotype in barth syndrome, Am J Med Genet 2001; 102(4): 372-378. 44.
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1
3-methylglutaconic aciduria syndromes including 3-methylglutaconyl-Coa hydratase deficiency (AUH), Barth syndrome, Costeff syndrome, dilated cardiomyopathy and ataxia syndrome. SERAC1 gene mutations have been shown to cause MEGDEL syndrome, resulting in abnormal mitochondrial oxidative phosphorylation functions and abnormal
Mild form of 3-methylglutaconic aciduria type IV and mutation
Mild form of 3-methylglutaconic aciduria type V are caused by mutations of four different genes (AUH, DNAJC19, The genetic cause of type IV is still unknown, although
Biochemical characterization of human 3-methylglutaconyl-CoA
The metabolic disease 3-methylglutaconic aciduria type I (MGA1) is char-acterized by an abnormal organic acid proﬁle in which there is excessive urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid and 3-hydroxyisovaleric acid. Affected individuals display variable clinical