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Metadata
ID DOID:0111254
Name glutaric acidemia I
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
Xrefs

GARD:6522

MESH:C536833

OMIM:231670

ORDO:25

Synonyms

GA1 [EXACT]

glutaric academia type 1 [EXACT]

glutaric aciduria 1 [EXACT]

glutaric aciduria type I [EXACT]

glutaryl-coA dehydrogenase deficiency [EXACT]

glutaryl-coenzyme A dehydrogenase deficiency [EXACT]

Parent Relationships

is_a organic acidemia

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