OBJECTIVES: To present a term newborn with severe asphyxial status due to dysrrhythmia induced by the neonatal form of carnitine palmitoyltransferase II deficiency (CPT II).
RESULTS: Term newborn delivered spontaneously (birth weight 3450 grams, birth length 52 cm, values of Apgar score 10/10) with good direct adaptation, on second day of life he manifested severe asphyxial status followed by cardiorespiratory insufficiency with circulatory failure. After prolonged resuscitation of 3 hours, the child was admitted to our neonatological department. Diagnosis of CPT II was confirmed (free carnitine level in blood 12.2 micromol/l; ratio (C16+C18):1/C2 was 0.760 by tandem mass spectrometry; activity of CPT II in leukocytes was 0.082 micromol/min x gram protein). After appropriate treatment the patient survived the critical period.
CONCLUSIONS: Neonatal form of CPT II deficiency is the most severe form and is considered to be invariably fatal. This kind of metabolic disease is congenital, but cardiac problems are not detectable during the prenatal period. Fasting in the early newborn period is a main trigger of CPT II deficiency signs. The authors emphasise the relevance of investigating acylcarnitine profiles and carnitine in serum in all cases of severe postnatal asphyxia and in cases of unusual newborn arrhythmias since some forms of disturbances in beta oxidation of fatty acids are partially treatable.