3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction.
Bakker
H D
HD
Academic Medical Center, Division of Emma Kinderziekenhuis/Children's AMC, University of Amsterdam, The Netherlands.
Wanders
R J
RJ
Schutgens
R B
RB
Abeling
N G
NG
van Gennip
A H
AH
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000178:diet therapy* / Q000201:enzymology*; D002648:Child; D004041:Dietary Fats / Q000008:administration & dosage*; D004044:Dietary Proteins / Q000008:administration & dosage*; D005260:Female; D006801:Humans; D007652:Oxo-Acid-Lyases / Q000172:deficiency*
D004041:Dietary Fats; D004044:Dietary Proteins; D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase