Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.
We report on three Chinese neonates with carnitine-acylcarnitine translocase deficiency. They presented within the first 48 hours of life. Two neonates were found in cardiac arrest; one of them survived after resuscitation. The third neonate suddenly developed cardiorespiratory insufficiency and succumbed eventually. The clustering of three cases in 5 years suggests that carnitine-acylcarnitine translocase deficiency is not rare in our Chinese population. We advocate that investigation for metabolic diseases including carnitine-acylcarnitine translocase deficiency should be performed in cases of sudden infant death and unexplained abrupt clinical deterioration in the early neonatal period. Non-ketotic hypoglycaemia is an early clue. The mainstay of initial treatment is glucose infusion at a rate greater than 7 mg/kg/minute, which inhibits beta-oxidation of fatty acids (the defective enzymatic steps in carnitine-acylcarnitine translocase deficiency) and thus prevents the accumulation of toxic long-chain acylcarnitines.
Lee
Robert S Y
RS
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong. leesyr@netvigator.com
Lam
C W
CW
Lai
C K
CK
Yuen
Y P
YP
Chan
K Y
KY
Shek
C C
CC
Chan
Albert Y W
AY
Chow
C B
CB
D016887:Cardiopulmonary Resuscitation; D002333:Carnitine Acyltransferases / Q000172:deficiency*; D017809:Fatal Outcome; D005260:Female; D006323:Heart Arrest / Q000209:etiology / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D012131:Respiratory Insufficiency / Q000209:etiology
D026901:Membrane Transport Proteins; C120109:SLC25A20 protein, human; D002333:Carnitine Acyltransferases