3-Methylglutaconic Aciduria, Type III / Optic Atrophy 3, with Cataract

3-Methylglutaconic Aciduria, Type III / Optic Atrophy 3, with Cataract [OPA3]: Type III 3-methylglutaconic aciduria is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and of 3-methylglutaric acid is increased.

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 13