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General Information
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| Term |
glutaric acidemia I |
ID (Ontology) |
DOID:0111254 (Human Disease) |
| 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. |
| Also Known As |
"GA1" ; "glutaric academia type 1" ; "glutaric aciduria 1" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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glutaric acidemia I | 1 | for disease ribbon | glutaric acidemia I | 1 | model of | glutaric acidemia I | 1 |
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Relationships