Carnitine-acylcarnitine translocase deficiency is a treatable disease.
al Aqeel
A I
AI
Department of Paediatrics, Riyadh Armed Forces Hospital, Kingdom of Saudi Arabia.
Rashed
M S
MS
Wanders
R J
RJ
D000108:Acetylcarnitine / Q000097:blood; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood / Q000627:therapeutic use; D002333:Carnitine Acyltransferases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000188:drug therapy*; D010172:Palmitoylcarnitine / Q000097:blood; D016896:Treatment Outcome
C116917:acylcarnitine; D010172:Palmitoylcarnitine; D000108:Acetylcarnitine; D002333:Carnitine Acyltransferases; D002331:Carnitine