What is Primary Carnitine Deficiency?

Primary carnitine deficiency is a rare disease caused by the occurrence of mitochondria in cells. Under normal circumstances, there are about 20 grams of carnitine in our human body. These substances can be obtained through diet and synthesis in the body. If the intake is insufficient or the body's synthesis is deficient, it will lead to carnitine deficiency. It has a relatively important relationship with genetics. The occurrence of this disease can easily cause lesions in the myocardial central nervous system.

Causes of primary carnitine deficiency

Patients with primary carnitine deficiency have a defect in the OCTN2 (Solute Carrier Family 22 (Organic Cation Transporter), Member 5; SLC22A5) gene at position 5q31.1, which causes the patient to lack the carnitine transporter on the cell membrane, resulting in the loss of carnitine in the urine.

Causes carnitine deficiency in the body. When carnitine is deficient in cells, problems will occur in the process of fatty acids entering the mitochondria, so there will not be enough fatty acids for β-oxidation and energy production, and there will not be enough ketone bodies for the brain to use. It mainly causes lesions in the myocardium, central nervous system, musculoskeletal system and other systems.

The incidence of this disease in Japan is about 1/40,000; in Australia it is about 1/37,000-100,000. There is no relevant research on the incidence of this disease in China so far, but it is estimated to be less than one in 100,000 to one in a million. However, related studies have found that Chinese people have a common mutation point, which is also prone to occur in the coastal areas of Southeast Asia, such as Hong Kong and Macau. It is speculated that this mutation may have a "Founder Effect", causing the incidence of this disease in residents in southern China to be higher than in other regions.