carnitine palmitoyltransferase II deficiency

info · Genetic

A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.

Signs and symptoms

Elevated circulating creatine kinase activity
Cardiomegaly
Hepatomegaly
Increased circulating lactate dehydrogenase concentration
Ventricular tachycardia
Respiratory arrest
Hypoketotic hypoglycemia
Renal insufficiency
Hypotonia
Long-chain dicarboxylic aciduria

Also known as: CPT-II; infantile carnitine palmitoyltransferase II deficiency; late-onset carnitine palmitoyltransferase II deficiency; lethal neonatal carnitine palmitoyltransferase II deficiency