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Definition

A metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGA3 can be distinguished from MGA1 by the absence of increase of 3-hydroxyisovaleric acid levels.

Acronym

MGA3

Synonyms

3-alpha-methylglutaconic aciduria type 3
Costeff optic atrophy syndrome
Costeff syndrome
MGA type III
MGCA3
Optic atrophy 3 autosomal recessive
Optic atrophy plus syndrome

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.