KEGG DISEASE: Glutaric acidemia

DISEASE: Glutaric acidemia

Entry

H00178                      Disease

Name

Glutaric acidemia

Subgroup

Glutaryl-CoA dehydrogenase deficiency (GA1)
Multiple acyl-CoA dehydrogenase deficiency (GA2/MADD)
Glutaryl-CoA oxidase deficiency (GA3)

Supergrp

Secondary hyperammonemia [DS:H01400]

Description

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.

Category

Inherited metabolic disorder

Brite

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-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06036  Lysine degradation
   H00178  Glutaric acidemia

Pathway

hsa00071

Fatty acid degradation

hsa00380

Tryptophan metabolism

hsa00310

Lysine degradation

Network

nt06036 Lysine degradation

Gene

(GA1) GCDH [HSA:2639] [KO:K00252]
(GA2) ETFA [HSA:2108] [KO:K03522]
(GA2) ETFB [HSA:2109] [KO:K03521]
(GA2) ETFDH [HSA:2110] [KO:K00311]
(GA3) SUGCT [HSA:79783] [KO:K18703]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:16368216

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

PMID:10960496 (GCDH)

Authors

Busquets C, Merinero B, Christensen E, Gelpi JL, Campistol J, Pineda M, Fernandez-Alvarez E, Prats JM, Sans A, Arteaga R, Marti M, Campos J, Martinez-Pardo M, Martinez-Bermejo A, Ruiz-Falco ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A

Title

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Journal

Pediatr Res 48:315-22 (2000)
DOI:10.1203/00006450-200009000-00009

Reference

PMID:8617498 (ETFA, ETFB, ETFDH)

Authors

White RA, Dowler LL, Angeloni SV, Koeller DM

Title

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.

Journal

Genomics 33:131-4 (1996)
DOI:10.1006/geno.1996.0170

Reference

PMID:23893049 (SUGCT)

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

» Japanese version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (3)   
   OMIM (3)   
Gene (10)   
   KEGG ORTHOLOGY (5)   
   KEGG GENES (5)   
Literature (4)   
   PubMed (4)   
All databases (19)   

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