3-Methylglutaconic aciduria has been found in two distinct syndromes. In one there is deficient activity of 3-methylglutaconyl coenzyme A hydratase, and the only clinical manifestation observed has been retardation of speech development. In the other, which includes a majority of the patients studied, we document that the activity of this enzyme in fibroblast extracts is normal. The phenotype of this disorder is one of profound neurological impairment with retarded psychomotor development, hypotonicity and/or spasticity, convulsions or EEG abnormalities, and sensorineural changes in the eye and ear.
- 3-Methylglutaconic aciduria
- 3-Methylglutaconyl-coenzyme A hydratase
- 3-Methylglutaric aciduria
- Psychomotor retardation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health