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.