KEGG   DISEASE: H00178Help
Entry
H00178                      Disease                                

Name
Glutaric acidemia, including:
Glutaric acidemia, type I (GA1);
Glutaric acidemia, type II (GA2);
Multiple acyl coenzyme A dehydrogenase deficiency
Description
Glutaric aciduria type I 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 is caused by a deficiency of either electron transport flavoprotein or of electron transport flavoprotein oxoreductase.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Fatty acid metabolism
Tryptophan metabolism
Lysine degradation
Gene
(GA1) GCDH; glutaryl-CoA dehydrogenase [HSA:2639] [KO:K00252]
(GA2) ETFA; electron transfer flavoprotein alpha subunit [HSA:2108] [KO:K03522]
(GA2) ETFB; electron transfer flavoprotein beta subunit [HSA:2109] [KO:K03521]
(GA2) ETFDH; electron-transferring-flavoprotein dehydrogenase [HSA:2110] [KO:K00311]
(GA3) SUGCT; succinate--hydroxymethylglutarate CoA-transferase [HSA:79783]
Marker
(GA1) 3-hydroxyglutarate
(GA2) 2-hydroxyglutarate [CPD:C02630]
(GA2) Methylmalonate [CPD:C02170]
(GA2) Hippurate [CPD:C01586]
(GA2) adipic acid
Drug
Baclofen [DR:D00241]
Riboflavin [DR:D00050]
Carnitine [DR:D02030]
Sodium-D,L-3-hydroxybutyrate
Other DBs
Reference
  Authors
Gordon N
  Title
Glutaric aciduria types I and II.
  Journal
Brain Dev 28:136-40 (2006)
Reference
  Authors
Marlaire S, Van Schaftingen E, Veiga-da-Cunha M
  Title
C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA.
  Journal
J Inherit Metab Dis 37:13-9 (2014)

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