|OBO ID: DOID:0111254|
|Term Name:||glutaric acidemia I||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0111254)|
|is a type of:||
OTHER glutaric acidemia I PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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