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

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

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...

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Bibliographic Details
Main 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 Giuffrè, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2024-04-01
Series:Italian Journal of Pediatrics
Subjects:
CPTII
Neonatal screening
Next generation sequencing
Fatty acid oxidation defect
Online Access:https://doi.org/10.1186/s13052-024-01632-x

Internet

https://doi.org/10.1186/s13052-024-01632-x

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