loading...| Preferred Name |
glutaric acidemia I |
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| Synonyms |
glutaric aciduria type I |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111254 |
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| database_cross_reference |
OMIM:231670 MESH:C536833 GARD:6522 ORDO:25 |
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| has exact synonym |
glutaric aciduria type I glutaric aciduria 1 glutaric academia type 1 GA1 glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0111254 |
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| in_subset | ||
| label |
glutaric acidemia I |
|
| notation |
DOID:0111254 |
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| prefLabel |
glutaric acidemia I |
|
| textual 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. |
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| subClassOf |