Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and...

leukoencephalopathy with subcortical cysts; and glutaric aciduria type 1 and D-2-hydroxyglutaric aciduria. At one end of the genetic spectrum, duplications...

gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results...

Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats...

Marjorie; Duran, Marinus (2011). "Diagnosis and management of glutaric aciduria type I – revised recommendations". Journal of Inherited Metabolic Disease...

GA-1 may refer to: GA1, Glutaric aciduria type 1, an inherited genetic disorder GA1, Gibberellin A1, a form of the gibberellin plant hormone Boeing GA-1...

per mole. Glutaconyl-CoA is postulated to be the main toxin in glutaric aciduria type 1. In certain fermentative bacteria, glutaconyl-CoA decarboxylation...

reaction conditions. Glutaric, 3-hydroxyglutaric, and glutaconic acids are structurally related metabolites. In glutaric aciduria type 1, glutaconic acid...

periaqueductal grey matter, brain stem, basal ganglia, and dentate nucleus. Glutaric aciduria type 1 (GA1): An autosomal recessive disease, GA1 is due to glutaryl-coenzyme...

epilepsia (ALDH7A1 gene), α-ketoadipic and α-aminoadipic aciduria (DHTKD1 gene), and glutaric aciduria type 1 (GCDH gene). Hyperlysinuria is marked by high amounts...

newborns in Manitoba for a number of rare conditions including glutaric aciduria type 1 in the Oji-Cree and carnitine palmitoyltransferase I deficiency...

children with pyridoxine-dependent seizures. GCDH is deficient in glutaric aciduria type 1. The intermediate 2-oxoadipate is metabolized by 2-oxoadipate dehydrogenase...

composition in an infant with type II glutaric aciduria". Journal of Lipid Research. 28 (3): 279–84. doi:10.1016/S0022-2275(20)38707-1. PMID 3572253. Singla M...

dehydrogenase deficiency (MADD; OMIM #231680; previously called glutaric aciduria type II). Biochemically, MADD is characterized by elevated levels of...

dehydrogenase deficiency (MADD; OMIM #231680; previously called glutaric aciduria type II). Biochemically, MADD is characterized by elevated levels of...

urine disease glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects Carbamoyl phosphate synthetase I deficiency Citrullinemia type II (citrin...

demonstrated in some patients with type II glutaric aciduria. The ETFDH gene is located on the q arm of chromosome 4 in position 32.1 and has 13 exons spanning...

disease (MSUD) < 1 in 100,000 Homocystinuria (HCY) < 1 in 100,000 Inborn errors of organic acid metabolism Glutaric acidemia type I (GA I) > 1 in 75,000...

deficiency Glutaric acidemia type 2 Glycogen debranching deficiency Glycogenosis type 1a Glycogenosis type 1b Glycogenosis type 3 Glycogenosis type 6 Glycogenosis...

metabolism. Mutations in this enzyme cause accumulation of glutarate (glutaric aciduria). List of EC numbers (EC 2)#EC 2.8.3: CoA-transferases 2 succinyl-CoA:3-oxoacid...

sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036...

Treatable Infantile Neuroregression and Diagnostic Dilemma with Glutaric Aciduria Type I". J Pediatr Neurosci. 12 (4): 356–359. doi:10.4103/jpn.JPN_35_17...

Elpeleg, Orly N.; Shalev, Ruth S.; Christensen, Ernst (June 1989). "Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindreds"...

been mandatory. One such disease is glutaric acidemia type I, a neurometabolic disease present in approximately 1 out of every 100,000 live births. A...