Autosomal recessive · Only a small number of people have been reported worldwide.
Caused by changes in both copies of the AUH gene, which makes 3-methylglutaconyl-CoA hydratase, an enzyme in the leucine breakdown pathway. Loss of the enzyme leads to a build-up of 3-methylglutaconic acid and related compounds in the urine.
Signs and symptoms
Presentation varies widely. Some children have speech or developmental delay, while others have no symptoms and are found through urine testing. In adults, a slowly progressive leukoencephalopathy can develop, with unsteadiness, stiffness and memory or thinking problems.
What a diagnosis changes
Diagnosis is supported by urine organic acid testing and enzyme activity testing, with neurological follow-up and supportive care. Levocarnitine and a lower protein intake have been used in one reported patient. Genetic counselling is recommended, and carrier testing is available for relatives.
Genes analysed
Also known as
3 alpha methylglutaconic aciduria type I; 3 methylglutaconyl CoA hydratase deficiency; 3-methylglutaconic aciduria caused by mutation in AUH; 3-METHYLGLUTACONIC aciduria, type I; 3-methylglutaconyl-CoA hydratase deficiency (auh defect); 3-MGCA type I (3-MGCA-1); 3MG CoA hydratase deficiency; AUH 3-methylglutaconic aciduria; MGA1; MGCA1
