loading...| Preferred Name |
glutaric acidemia I |
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| Synonyms |
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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 GCDH on chromosome 19p13. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111254 |
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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 GCDH on chromosome 19p13. |
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| label |
glutaric acidemia I |
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| prefixIRI |
DOID:0111254 |
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| prefLabel |
glutaric acidemia I |
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