3-Methylglutaconic Aciduria, Type I (MGCA1)

Alias:

3-Methylglutaconic Aciduria Type 1

3-Methylglutaconyl-Coa Hydratase Deficiency

Mga1

3mg-Coa Hydratase Deficiency

Mgca1

3-Mg-Coa-Hydratase Deficiency

Mga, Type I

Mga Type I

Megaloblastic Anemia Due to Inborn Errors of Metabolism

3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency

3 Methylglutaconyl Coa Hydratase Deficiency

3-Alpha-Methylglutaconic Aciduria Type 1

3-@methylglutaconic Aciduria, Type I

Primary 3-Methylglutaconic Aciduria

3-Methylglutaconic Aciduria Type I

3-Methylglutaconic Aciduria 1

Auh Defect

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

3-Methylglutaconic Aciduria, Type I, also known as 3-methylglutaconic aciduria type 1, is related to 3-methylglutaconic aciduria, type iv and 3-methylglutaconic aciduria, and has symptoms including athetosis and cerebellar ataxia. An important gene associated with 3-Methylglutaconic Aciduria, Type I is AUH (AU RNA Binding Methylglutaconyl-CoA Hydratase), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Amino acid metabolism. Affiliated tissues include brain and skeletal muscle, and related phenotypes are failure to thrive and 3-methylglutaconic aciduria

Related ID：

MALACARDS：3MT015

OMIM：250950

MESH：C562801