3-methylglutaconic aciduria, type III


What is 3-methylglutaconic aciduria type 3?

3-methylglutaconic aciduria type 3 is a metabolic condition caused by genetic changes (mutations) to the OPA3 gene. Metabolic conditions affect the way our bodies break down and process the molecules our cells need to function. In 3-methylglutaconic aciduria type 3, the protein OPA3 does not work properly. It is not fully known what this protein normally does, but it is thought that it helps our cells to produce energy. The symptoms of 3-methylglutaconic aciduria type 3 include vision problems, movement problems, and mild to moderate intellectual disability. It is inherited in an autosomal recessive manner, which means a person needs a change/mutation in both copies of the OPA3 genes to have the condition. It is almost always seen in people with Iraqi Jewish ancestry.

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Are there other names for 3-methylglutaconic aciduria type 3?

Are there other names for 3-methylglutaconic aciduria type 3?

Other names you might hear to refer to 3-methylglutaconic aciduria type 3 are:

  • 3-methylglutaconic aciduria type 3 (or type III)
  • Autosomal recessive OPA3
  • Autosomal optic atrophy 3
  • Costeff optic atrophy syndrome
  • Infantile optic atrophy with chorea and spastic paraplegia
  • Iraqi Jewish optic atrophy plus
  • MGA3
  • MGA, type III
  • OPA3 defect
  • OPA3-Related 3-methylglutaconic aciduria
  • Optic atrophy plus syndrome

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