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DO Term : glutaric acidemia I [DOID:0111254] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • glutaric academia type 1,
  • OMIM:231670,
  • glutaric aciduria 1,
  • MESH:C536833,
  • GA1,
  • glutaryl-coenzyme A dehydrogenase deficiency,
  • glutaryl-coA dehydrogenase deficiency,
  • ORDO:25,
  • glutaric aciduria type I,
  • GARD:6522,
  • 231670
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