Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest

RSY Lee, CW Lam, CK Lai, YP Yuen, KY Chan, CC Shek, AYW Chan, CB Chow
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong

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.

Hong Kong Med J 2007;13:66-8

Key words: Carnitine acyltransferases; Deficiency; Sudden infant death