Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.
Gibson
K M
KM
Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA.
Wappner
R S
RS
Jooste
S
S
Erasmus
E
E
Mienie
L J
LJ
Gerlo
E
E
Desprechins
B
B
De Meirleir
L
L
D000293:Adolescent; D001921:Brain / Q000473:pathology; D002658:Developmental Disabilities / Q000175:diagnosis / Q000201:enzymology; D005260:Female; D005977:Glutarates / Q000652:urine; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency*; D007223:Infant; D007930:Leucine / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000473:pathology
D005977:Glutarates; C022034:3-methylglutaconic acid; D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase; D007930:Leucine