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...
26 KB (3,021 words) - 16:43, 3 October 2023
Macrocephaly (redirect from Macrocephaly dominant type)
leukoencephalopathy with subcortical cysts; and glutaric aciduria type 1 and D-2-hydroxyglutaric aciduria. At one end of the genetic spectrum, duplications...
18 KB (1,722 words) - 07:10, 15 April 2024
Glutaryl-CoA dehydrogenase (redirect from EC 1.3.8.6)
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...
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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...
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Organic acidemia (redirect from Aciduria)
Marjorie; Duran, Marinus (2011). "Diagnosis and management of glutaric aciduria type I – revised recommendations". Journal of Inherited Metabolic Disease...
7 KB (711 words) - 07:18, 15 April 2024
Glutaconyl-CoA (redirect from Glutaconyl-1-CoA)
per mole. Glutaconyl-CoA is postulated to be the main toxin in glutaric aciduria type 1. In certain fermentative bacteria, glutaconyl-CoA decarboxylation...
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reaction conditions. Glutaric, 3-hydroxyglutaric, and glutaconic acids are structurally related metabolites. In glutaric aciduria type 1, glutaconic acid...
4 KB (267 words) - 19:34, 16 July 2024
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...
19 KB (2,530 words) - 16:30, 16 August 2024
epilepsia (ALDH7A1 gene), α-ketoadipic and α-aminoadipic aciduria (DHTKD1 gene), and glutaric aciduria type 1 (GCDH gene). Hyperlysinuria is marked by high amounts...
68 KB (7,492 words) - 14:14, 22 June 2024
newborns in Manitoba for a number of rare conditions including glutaric aciduria type 1 in the Oji-Cree and carnitine palmitoyltransferase I deficiency...
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children with pyridoxine-dependent seizures. GCDH is deficient in glutaric aciduria type 1. The intermediate 2-oxoadipate is metabolized by 2-oxoadipate dehydrogenase...
17 KB (1,908 words) - 00:04, 28 November 2023
Electron-transferring-flavoprotein dehydrogenase (redirect from EC 1.5.5.1)
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...
12 KB (1,315 words) - 14:49, 5 September 2023
dehydrogenase deficiency (MADD; OMIM #231680; previously called glutaric aciduria type II). Biochemically, MADD is characterized by elevated levels of...
18 KB (2,140 words) - 13:41, 2 January 2024
dehydrogenase deficiency (MADD; OMIM #231680; previously called glutaric aciduria type II). Biochemically, MADD is characterized by elevated levels of...
19 KB (2,257 words) - 13:41, 2 January 2024
urine disease glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects Carbamoyl phosphate synthetase I deficiency Citrullinemia type II (citrin...
15 KB (1,517 words) - 07:36, 14 July 2024
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...
9 KB (1,100 words) - 13:38, 14 January 2024
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...
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deficiency Glutaric acidemia type 2 Glycogen debranching deficiency Glycogenosis type 1a Glycogenosis type 1b Glycogenosis type 3 Glycogenosis type 6 Glycogenosis...
21 KB (1,265 words) - 01:46, 22 December 2023
Coenzyme A transferases (section Types of catalysis)
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...
10 KB (1,316 words) - 08:04, 4 January 2024
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...
42 KB (983 words) - 10:34, 21 August 2024
Demyelinating disease (section Types)
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...
24 KB (2,701 words) - 21:14, 9 March 2024
Elpeleg, Orly N.; Shalev, Ruth S.; Christensen, Ernst (June 1989). "Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindreds"...
11 KB (1,090 words) - 03:22, 8 July 2024
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...
66 KB (8,039 words) - 17:46, 24 August 2024