title: Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.
abstract: 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.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong. leesyr@netvigator.com
authors.forename: Robert S Y
authors.initials: RS
authors.lastname: Lee
authors.forename: C W
authors.initials: CW
authors.lastname: Lam
authors.forename: C K
authors.initials: CK
authors.lastname: Lai
authors.forename: Y P
authors.initials: YP
authors.lastname: Yuen
authors.forename: K Y
authors.initials: KY
authors.lastname: Chan
authors.forename: C C
authors.initials: CC
authors.lastname: Shek
authors.forename: Albert Y W
authors.initials: AY
authors.lastname: Chan
authors.forename: C B
authors.initials: CB
authors.lastname: Chow
mesh_terms: 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
chemical_list: D026901:Membrane Transport Proteins; C120109:SLC25A20 protein, human; D002333:Carnitine Acyltransferases