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 I: Mutations in the AUH gene cause Type I 3- methylglutaconic aciduria. Symptoms include speech delay, delay in the development of mental and motor skills, elevated levels of acid in the blood, abnormal muscle tone, and spasms and weakness of the arms and legs Types II, III, IV and IV are caused by mutations in the DNAJC19, OPA3, and TAZ genes.


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