Carnitine Palmitoyltransferase (CPT) II deficiency

Carnitine Palmitoyltransferase II (CPT II) deficiency is a rare genetic condition where the body cannot properly process certain fats into energy. There are three main types of CPT II deficiency. The least severe, myopathic form is characterized by recurrent episodes of muscle pain and weakness, which usually begin during childhood or adolescence. The neonatal (appears shortly after birth) and infantile forms, which are both very rare, are severe multi-systemic diseases affecting the liver, heart and other vital organs, resulting in serious illness and early death.

The above was compiled from sources including the National Institutes of Health (NIH) Genetics Home Reference and Office of Rare Disease Research and both sites contain additional information and resources.To find a genetic counselor in your area visit