title: 3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of California San Diego, La Jolla 92093.
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
authors.forename: W L
authors.initials: WL
authors.lastname: Nyhan
authors.forename: L
authors.initials: L
authors.lastname: Sweetman
authors.forename: K
authors.initials: K
authors.lastname: Narisawa
authors.forename: W
authors.initials: W
authors.lastname: Lehnert
authors.forename: P
authors.initials: P
authors.lastname: Divry
authors.forename: B H
authors.initials: BH
authors.lastname: Robinson
authors.forename: K S
authors.initials: KS
authors.lastname: Roth
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: F J
authors.initials: FJ
authors.lastname: van Sprang
mesh_terms: D055598:Chemical Phenomena; D002621:Chemistry; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006836:Hydro-Lyases / Q000378:metabolism*; D007223:Infant; D007231:Infant, Newborn; D007805:Language Development Disorders / Q000209:etiology; D008297:Male; D009048:Motor Skills
chemical_list: D005977:Glutarates; C022034:3-methylglutaconic acid; D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase