Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome

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, ...

Source: Italian Journal of Pediatrics - April 14, 2024 Category: Pediatrics Authors: Gregorio Serra, Vincenzo Antona, Vincenzo Insinga, Giusy Morgante, Alessia Vassallo, Simona La Placa, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Eloisa Gitto, Mario Giuffr è and Giovanni Corsello Tags: Case report Source Type: research