3-methylglutaconic aciduria

(redirected from 3-Methylglutaconic aciduria type I)

3-meth·yl·glu·ta·con·ic ac·i·du·ri·a

(meth'il-glū'tă-kon'ik as'i-dyū'rē-a),
Elevated levels of 3-methylglutaconic acid in the urine. An inherited disorder the mild form of which is a result of a deficiency of 3-methylglutaconyl-CoA hydratase, leading to delayed speech development.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.
3-Methylglutaconic aciduria type I is caused by mutations in AUH.
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat 2003;21:401-7.

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