OBO ID: DOID:0111254
Term Name: glutaric acidemia I Search Ontology:
Synonyms:
  • GA1
  • glutaric academia type 1
  • glutaric aciduria 1
  • glutaric aciduria type I
  • glutaryl-coA dehydrogenase deficiency
  • glutaryl-coenzyme A dehydrogenase deficiency
Definition: An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in GCDH on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/16602100
References:
Ontology: Human Disease   (DOID:0111254)
OTHER glutaric acidemia I PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GCDH Glutaricaciduria, type I 231670
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None