3-methylglutaconic aciduria (3MGA) Type V

The name 3- Methylglutaconic aciduria is used to describe five different disorders that impair the functioning of energy-producing centers within cells (mitochondria).

There are five types of 3- methylglutaconic aciduria numbered I, II, III, IV and V. Type V: Mutations in the DNAJC19 gene cause Type V 3-methylglutaconic aciduria. Symptoms include an enlarged and weakened heart, inability to control voluntary muscle movements, growth failure, mild intellectual disability and optic atrophy Types I, II, III, and V are caused by mutations in the AUH, OPA3, and TAZ genes.