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

• Main Authors: Gregorio Serra (Author), Vincenzo Antona (Author), Vincenzo Insinga (Author), Giusy Morgante (Author), Alessia Vassallo (Author), Simona La Placa (Author), Ettore Piro (Author), Sergio Salerno (Author), Ingrid Anne Mandy Schierz (Author), Eloisa Gitto (Author), Mario Giuffrè (Author), Giovanni Corsello (Author)
• Format: Book
• Published: BMC, 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...