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.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/3-methylglutaconic-aciduria-type-iii/overview/3241 • DATE UPDATED: 2019-04-22
OPA3-related 3-methylglutaconic aciduria. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1473/