Acute Respiratory Infection Unveiling CPT II Deficiency

International Journal of Molecular Sciences
02 Oct, 2018 ,

Carnitine Palmitoyltransferase 2 CPT II is involved in longchain fattyacid mitochondrial transport Three clinical phenotypes of CPT II deficiency have been described Lethal neonatal onset infantile severe form and the late onset more common muscular form The muscular form of CPT II deficiency is characterized by pain crises and rhabdomyolysis triggered by energydependent factors