Carnitine palmitoyl transferaseII deficiency is an autosomal recessively inheritedgenetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source.
The disorder presents in one of three clinical forms: lethal neonatal, severe infantile hepatocardiomuscular and myopathic.
What Is Carnitine Palmitoyltransferase II Deficiency?
Carnitine Palmitoyltransferase II (CPT II) deficiency, caused by mutations in the CPT2 gene, is an inherited disease in which the body cannot convert long-chain fatty acids into energy to fuel the body. There are three forms of the disease, and the severity and symptoms vary based on the form. In all three forms, symptoms can be triggered by periods without eating (fasting).
