Gregorio Serra, Vincenzo Antona, Vincenzo Insinga, Giusy Morgante, Alessia Vassallo, Simona La Placa, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Eloisa Gitto, Mario Giuffrè, Giovanni Corsello
BACKGROUND: Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inborn error of mitochondrial fatty acid metabolism with autosomal recessive pattern of inheritance. Its phenotype is highly variable (neonatal, infantile, and adult onset) on the base of mutations of the CPT II gene. In affected subjects, long-chain acylcarnitines cannot be subdivided into carnitine and acyl-CoA, leading to their toxic accumulation in different organs. Neonatal form is the most severe, and all the reported patients died within a few days to 6 months after birth...
April 14, 2024: Italian Journal of Pediatrics