KEGG   DISEASE: Glutaric acidemia
Entry
H00178                      Disease                                

Name
Glutaric acidemia
  Supergrp
Secondary hyperammonemia [DS:H01400]
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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00178  Glutaric acidemia
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00178  Glutaric acidemia
Pathway
hsa00071  Fatty acid degradation
hsa00380  Tryptophan metabolism
hsa00310  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] [KO:K18703]
Other DBs
ICD-11: 5C50.E1
ICD-10: E71.3 E72.3
MeSH: D054069 C536833
OMIM: 231670 231680 231690
Reference
  Authors
Gordon N
  Title
Glutaric aciduria types I and II.
  Journal
Brain Dev 28:136-40 (2006)
DOI:10.1016/j.braindev.2005.06.010
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)
DOI:10.1007/s10545-013-9632-0
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