Question
The heel prick blood test of a girl collected five days after birth showed primary carnitine deficiency. The normal level of carnitine in children should be over 10, but the girl’s level was only 3.8. After taking digestive carnitine for a month, the test result was the same. The doctor recommended lifelong medication.
Answer
Carnitine deficiency is a relatively common disease, with approximately 20 grams of carnitine stored in the body, which is maintained through dietary intake, intracellular synthesis, and renal reabsorption. Treatment usually involves oral intake of digestive carnitine and avoiding prolonged fasting to prevent symptoms from worsening. In cases of acute attacks with symptoms such as brain inflammation due to hypoketotic hypoglycemia, immediate glucose infusion should be administered, and intravenous injection of digestive carnitine can be used to increase the body’s carnitine content, promoting fatty acid metabolism and breakdown. For diagnosed patients, lifelong intake of digestive carnitine may be necessary to maintain health.