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 III (Costeff Optic Syndrome): Mutations in the OPA3 gene cause the Type III form of this disorder which is characterized by degeneration of the optic nerves, inability to maintain posture, poor muscle tone, gradual increase in involuntary jerking movements, and general decrease in cognitive function. Types I, II, IV and IV are caused by mutations in the AUH, DNAJC19, and TAZ genes.


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