Glutaric Acidemia I (GA1)

Alias:

Glutaryl-Coa Dehydrogenase Deficiency

Ga1

Glutaric Acidemia Type 1

Glutaric Aciduria Type 1

Glutaryl-Coenzyme a Dehydrogenase Deficiency

Glutaric Aciduria, Type 1

Glutaricaciduria, Type I

Glutaric Acidemia Type I

Glutaric Aciduria I

Glutaric Aciduria 1

Gcdhd

Ga I

Glutaric Aciduria, Type I

Glutaric Academia Type 1

Glutaric Aciduria Type I

Glutaricaciduria, Type 1

Glutaricaciduria I

Gcdh Deficiency

Ga-1

Ga-I

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glutaric Acidemia I, also known as glutaryl-coa dehydrogenase deficiency, is related to multiple acyl-coa dehydrogenase deficiency and 2-hydroxyglutaric aciduria, and has symptoms including muscle rigidity and opisthotonus. An important gene associated with Glutaric Acidemia I is GCDH (Glutaryl-CoA Dehydrogenase), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Carbamide peroxide and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include brain and caudate nucleus, and related phenotypes are glutaric aciduria and abnormal basal ganglia morphology

Related ID：

MALACARDS：GLT035

OMIM：231670

MESH：C536833