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

• Главные авторы: Gregorio Serra (Автор), Vincenzo Antona (Автор), Vincenzo Insinga (Автор), Giusy Morgante (Автор), Alessia Vassallo (Автор), Simona La Placa (Автор), Ettore Piro (Автор), Sergio Salerno (Автор), Ingrid Anne Mandy Schierz (Автор), Eloisa Gitto (Автор), Mario Giuffrè (Автор), Giovanni Corsello (Автор)
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• Опубликовано: BMC, 2024-04-01T00:00:00Z.
• Предметы: article
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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...