3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.
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.
Gibson
K M
KM
Department of Pediatrics, University of California San Diego, La Jolla 92093.
Nyhan
W L
WL
Sweetman
L
L
Narisawa
K
K
Lehnert
W
W
Divry
P
P
Robinson
B H
BH
Roth
K S
KS
Beemer
F A
FA
van Sprang
F J
FJ
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
D005977:Glutarates; C022034:3-methylglutaconic acid; D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase