3-methylglutaconic aciduria


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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.
References in periodicals archive ?
Anikster, "3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings," Molecular Genetics and Metabolism, vol.
Clinical features MFN2 OPA1 OPA3 PINK1 Axonal neuropathy +++ + Optic atrophy + +++ +++ Deafness + ++ Limb girdle weakness + + Progressive external ophthalmoplegia ++ Cataract +++ Resting tremor, rigidity, and bradykinesia +++ White matter periventricular involvement + + 3-Methylglutaconic aciduria +++ Cognitive decline + + + + Spasticity ++ ++ Ataxia + + +++: typical; ++: common; +: infrequent.
3-Methylglutaconic aciduria type I is caused by mutations in AUH.
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy.
The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduria. Clin Chim Acta 1994;230:1-8.
3-Methylglutaconic aciduria type I in a boy with fever-associated seizures.

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