Primary carnitine deficiency is mainly due to defects in the function of carnitine transporter protein, and is associated with chromosomal recessive inheritance. According to the current analysis, it cannot be completely cured, but most patients can be controlled after regular treatment, with a good prognosis and able to live a normal life.
Because primary carnitine deficiency is a relatively rare autosomal recessive genetic disease, so the disease is not completely curable in the clinic, only through timely treatment to improve the prognosis, reduce the related symptoms, most patients can be normal employment, normal life after regular treatment.
If primary carnitine deficiency is detected, patients should be supplemented with leucovorin as soon as possible, and dietary intervention should be carried out. Diet should encourage patients to eat more red meat, and vitamins and iron supplements should be provided according to the requirements, with the purpose of ensuring their own carnitine synthesis.
Primary carnitine deficiency can be restored to normal life for most patients through early diagnosis and treatment; however, if the condition is delayed, it may cause some complications, which are prone to damage the heart muscle, thus causing respiratory difficulties, edema, and so on.