Glutaric acidemia

Definition:

Glutaric aciduria type I (GA1) is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase leading to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. Glutaric aciduria type II (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is caused by a deficiency of either electron transport flavoprotein or of electron transport flavoprotein oxoreductase.

References:

[1]. C Busquets, et al. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res. 2000 Sep;48(3):315-22. [Content Brief]

[2]. Neil Gordon, et al. Glutaric aciduria types I and II. Brain Dev. 2006 Apr;28(3):136-40. [Content Brief]

[3]. R A White, et al. Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human. Genomics. 1996 Apr 1;33(1):131-4. [Content Brief]

[4]. Simon Marlaire, et al. C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA. J Inherit Metab Dis. 2014 Jan;37(1):13-9. [Content Brief]

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