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3-methylglutaconic aciduria type 3
rare3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.
- Identifiers
- MONDO:0009787 OMIM:258501Orphanet:67047
- Causal genes
- OPA3
- Part of
- 3-methylglutaconic aciduria
- Also known as
- 3-alpha methylglutaconic aciduria type III · 3-methylglutaconic aciduria caused by mutation in OPA3 · 3-methylglutaconic aciduria, type III · autosomal recessive optic atrophy plus syndrome · autosomal recessive optic atrophy type 3
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