3-methylglutaconic aciduria

Definition

A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.

Also identified as

• DOID 0060336 per MONDO
• ICD10CM E71.111 per MONDO
• MESH C579867 per MONDO
• NCIT C98678 per MONDO
• Orphanet 289902 per MONDO
• SCTID 237950009 per MONDO
• UMLS C3696376 per MONDO