OBO ID: DOID:0111254 |
Term Name: | glutaric acidemia I | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111254 ) |
OTHER glutaric acidemia I PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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