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Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival

2009; BMJ; Volume: 2009; Issue: jun25 1 Linguagem: Inglês

10.1136/bcr.02.2009.1550

1757-790X

Petra C E Hissink-Muller, Enrico Lopriore, C Boelen, F. J. Klumper, M. Durán, Frans J. Walther,

Mitochondrial Function and Pathology

Carnitine palmitoyltransferase (CPT) deficiencies are disorders of mitochondrial fatty acid oxidation (FAO). In fatty acid oxidation, long-chain fatty acids need the carnitine cycle to be transported from the cytosol to the mitochondria. In CPT II deficiency, long-chain acylcarnitines cannot be metabolised to carnitine and acyl-CoA, leading to accumulation of toxic long-chain acylcarnitines. Three clinical presentations of CPT II deficiency have been identified: the adult form, the infantile form and the neonatal form. The neonatal form of CPT II is the most severe and all reported patients died within a few days to 6 weeks after birth. The first case of a patient with neonatal CPT II deficiency surviving beyond the neonatal period is described. Unfortunately, the infant died at the age of 6 months due to untreatable cardiac arrhythmias.