Fat metabolism deficiences

Carnitine Acyl Transferase II Deficiency is a metabolic disease that is caused by an inherited defect in the enzyme Carnitine Acyl Transferase II (also called Carnitine Palmitoyl Transferase II or CPT II) on the inner membrane of the mitochondria (see Figure 1). It is one of the most common inherited defects in lipid metabolism. CPTII is a required enzyme in the transport of long-chain fatty acids into the mitochondrial matrix for fatty acid oxidation. Small and medium sized fatty acids can diffuse into the mitochondrial matrix without the help of CPTII.

Figure 1. CPTII is found on the inner mitochondrial membrane. It converts Acyl-Carnitine to Carnitine + Acyl-CoA in the mitochondrial matrix.

Source: Wikipedia Commons - http://en.wikipedia.org/wiki/File:Acyl-CoA_from_cytosol_to_the_mitochondrial_matrix.svg

CPTII Deficiency has an autosomal recessive inheritance pattern. Clinical manifestations vary and depend on the age of onset. In the most common (and least severe) form, patients are diagnosed in early adulthood and often complain of muscle pain and weakness. In addition, symptoms are often induced by exercise, fasting, a high-fat diet, and infection. In the less common (and more severe) infant-form, patients often suffer from liver failure and recurring hypoglycemia.