3-methylglutaconic aciduria (3MGA) Type I

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

Signs and Symptoms
There are five types of 3- methylglutaconic aciduria numbered I, II, III, IV and V. Type II (Barth Syndrome): Mutations in the TAZ gene cause the Type II form of this disorder, which is characterized by, and enlarge and weakened heart, reoccurring infections, muscle weakness, and muscle spasms. Types I, III, IV and IV are caused by mutations in the AUH, DNAJC19, and OPA3 genes.


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