Patient's question:
The girl had no symptoms at birth. On the fifth day, a heel blood test revealed primary carnitine deficiency. Normal children should have levels above 10, but my child's was only 3.8, which is very low. Another test confirmed the same result. The doctor prescribed medication to supplement carnitine, which is an oral liquid. After taking it for a month, the second visit revealed that the child might need lifelong medication.Doctor's answer:
Carnitine deficiency is a relatively common disease related to cellular mitochondria. Under normal conditions, the human body stores about 20 grams of carnitine, maintaining a dynamic balance through dietary intake, endogenous production, renal excretion, and reabsorption pathways. In terms of treatment, oral carnitine supplementation can be administered daily, and measures should be taken to prevent recurrence of hunger and fasting to avoid further deterioration of symptoms. When acute recurrence occurs, leading to encephalitis with ketotic hypoglycemia, intravenous glucose infusion should be administered first. If the patient is confirmed to have this condition, intravenous carnitine supplementation can be provided to enhance intramitochondrial carnitine levels, which will help in the transport and catabolism of fatty acids within the mitochondria.