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loading...| Preferred Name |
Glutaric Acidemia Type 1 |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99101 |
| code |
C99101 |
| Concept_In_Subset | |
| Contributing_Source |
NICHD |
| DEFINITION |
A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia. |
| FULL_SYN |
Glutaric Aciduria, Type 1 |
| Has_NICHD_Parent | |
| label |
Glutaric Acidemia Type 1 |
| NICHD_Hierarchy_Term |
Glutaric Aciduria, Type 1 |
| Preferred_Name |
Glutaric Acidemia Type 1 |
| prefixIRI |
C99101 |
| prefLabel |
Glutaric Acidemia Type 1 |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0268595 |
| subClassOf |