3-methylglutaconic aciduria type 1

A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.

Signs and symptoms

• Reduced tissue 3-methylglutaconyl-CoA hydratase activity
• 3-Methylglutaconic aciduria
• Abnormal cerebral white matter morphology
• Dystonia
• Urinary incontinence
• Motor delay
• Cognitive impairment
• Failure to thrive
• Short attention span
• Metabolic acidosis

Also known as: 3-methylglutaconic aciduria type I; 3-methylglutaconyl-CoA hydratase deficiency; 3MG-CoA hydratase deficiency; MGA type I; MGA1