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

Hong Kong Med J. 2007 Feb;13(1):66-8.

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.

Publication types

  • Case Reports

MeSH terms

  • Cardiopulmonary Resuscitation
  • Carnitine Acyltransferases / deficiency*
  • Fatal Outcome
  • Female
  • Heart Arrest / etiology
  • Heart Arrest / therapy
  • Humans
  • Infant, Newborn
  • Male
  • Membrane Transport Proteins / genetics
  • Mutation
  • Respiratory Insufficiency / etiology

Substances

  • Membrane Transport Proteins
  • SLC25A20 protein, human
  • Carnitine Acyltransferases