Search Ontology:
Human Disease

glutaric acidemia I

Term ID
DOID:0111254
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 the GCDH gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/16602100
References
Ontology
Human Disease   ( DOID:0111254 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models