Carnitine Palmitoyltransferase II Deficiency, also known as CPT II Deficiency, is a rare genetic disorder that affects the body's ability to metabolize fatty acids. It is an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition.
CPT II is an enzyme required for the transport of long-chain fatty acids into the mitochondria, where they can be broken down and used as a source of energy. In individuals with CPT II Deficiency, the enzyme is either completely absent or not functioning properly, leading to an impaired ability to metabolize fatty acids.
Symptoms of CPT II Deficiency can vary widely and may include muscle pain, weakness, and stiffness, as well as exercise intolerance, fatigue, and rhabdomyolysis (abnormal breakdown of muscle tissue). In severe cases, the condition can lead to myoglobinuria (presence of muscle proteins in urine) and potentially life-threatening complications such as acute renal failure.
Diagnosis of CPT II Deficiency is usually achieved through genetic testing, which can identify mutations in the CPT2 gene. Treatment mainly involves the management of symptoms and includes avoiding fasting, consuming a low-fat diet, and regular physical exercise to optimize energy metabolism.
In conclusion, Carnitine Palmitoyltransferase II Deficiency is a rare genetic disorder characterized by the impaired ability to break down long-chain fatty acids. It can result in various symptoms related to muscle function and metabolism, and its management consists of dietary and lifestyle modifications.
