Glutaric Acidemia Type 1

Preferred Label : Glutaric Acidemia Type 1;

NCIt related terms : Glutaric Aciduria, Type 1;

NCIt 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.;

Détails

Origin ID

C99101;

UMLS CUI

C0268595;

Currated CISMeF NLP mapping
- Glutaric Acidemia I [MeSH Supplementary Concept]
- Glutaric Acidemia I [MeSH concept]
- Glutaric acidemia I [OMIM Phenotype]
- Glutaric acidemia type 1 [LOINC component]
- Glutaric aciduria type 1 [ICD-11 More detail]
- Glutaric aciduria type I [PASCAL descriptor]
- Glutaric aciduria, type 1 (disorder) [SNOMED CT concept]
- Glutaryl-CoA dehydrogenase deficiency [ORDO Disease]
- Glutaryl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- glutaric acidemia I [DO Concept]
- glutaric aciduria type 1 [Disease (Nov.)]
- glutaric aciduria, type 1 [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutaric Acidemia I [MeSH Supplementary Concept]
- Glutaric Acidemia I [MeSH concept]
- Glutaric acidaemia type I [MedDRA Preferred Term]
- Glutaric acidemia I [OMIM Phenotype]
- Glutaric acidemia type 1 [LOINC component]
- Glutaric acidemia type I [MedDRA LLT]
- Glutaric aciduria type 1 [ICD-11 More detail]
- Glutaric aciduria type I [PASCAL descriptor]
- Glutaric aciduria, type 1 (disorder) [SNOMED CT concept]
- Glutaryl-CoA dehydrogenase deficiency [ORDO Disease]
- Glutaryl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- glutaric acidemia I [DO Concept]
- glutaric aciduria type 1 [Disease (Nov.)]
- glutaric aciduria, type 1 [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GCDH Gene [NCIt concept]

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