Glutaric acidemia I

Preferred Label : Glutaric acidemia I;

Symbol : GA1;

CISMeF acronym : GA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ga I; Glutaric aciduria I; Glutaryl-coa dehydrogenase deficiency;

Description : Glutaric acidemia I is an autosomal recessive metabolic disorder characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement disorder that usually begins during the first year of life (Goodman et al., 1995). Hedlund et al. (2006) provided a detailed review of the clinical and biochemical aspects of glutaric acidemia type I.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutaryl-CoA dehydrogenase gene (GCDH, 608801.0001);

Laboratory abnormalities : Glutaricaciduria; Glutaryl-CoA dehydrogenase deficiency; Metabolic acidosis; Ketonemia; Ketonuria; Hypoglycemia;

Prefixed ID : #231670;

Details

Origin ID

231670;

UMLS CUI

C0268595;

Automatic exact mappings (from CISMeF team)
- multiple acyl coenzyme a dehydrogenase deficiency [MeSH Descriptor]
Currated CISMeF NLP mapping
- Glutaric Acidemia I [MeSH concept]
- Glutaric Acidemia I [MeSH Supplementary Concept]
- Glutaric Acidemia Type 1 [NCIt concept]
- 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]
DO Cross reference
- glutaric acidemia I [DO Concept]
Genes related to phenotype
- Glutaryl-coa dehydrogenase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Choreoathetosis [HPO term]
- Delayed myelination [HPO term]
- Dilation of lateral ventricles [HPO term]
- Dystonia [HPO term]
- Elevated circulating glutaric acid concentration [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Glutaric aciduria [HPO term]
- Hepatomegaly [HPO term]
- Hyperketonemia [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Infantile encephalopathy [HPO term]
- Ketonemia [HPO term]
- Ketonuria [HPO term]
- Ketosis [HPO term]
- Macrocephaly [HPO term]
- Metabolic acidosis [HPO term]
- Opisthotonus [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Spastic diplegia [HPO term]
- Symmetrical progressive peripheral demyelination [HPO term]
ORDO concept(s)
- Glutaryl-CoA dehydrogenase deficiency [ORDO Disease]
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 Acidemia Type 1 [NCIt concept]
- Glutaric acidaemia type I [MedDRA Preferred Term]
- 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]

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