Is there a cure for phenylketonuria?

Is there a cure for phenylketonuria? This is a question that many patients' families are concerned about. Whether this disease can be cured or not is unknown, because the harm caused by this disease is very great, but how to treat it? Let's learn how phenylketonuria can be cured!

Phenylketonuria is a genetic disease caused by chemical errors in the body, resulting in the accumulation of phenylalanine in the blood. If not treated, phenylketonuria may cause brain damage in children. The incidence of this disease is about 1 in 10,000. Generally, a blood test for phenylketonuria should be routinely performed soon after the baby is born. However, it is completely curable if it is discovered and treated in the early stages.

The goal of dietary therapy is to keep the phenylalanine level in the blood at 0.24-0.6 mmol/L. Children can be fed with low-phenylalanine foods supplemented with breast milk and cow's milk. Every 100 ml of breast milk contains about 40 mg of phenylalanine, and every 30 ml of cow's milk contains 50 mg. Special foods that limit phenylalanine intake are expensive and difficult to operate.

As for when the dietary treatment of restricting phenylalanine intake can be stopped, there is no consensus so far, and it is generally believed that it should be continued for 10 years. While restricting phenylalanine intake, tyrosine supplementation is combined or the diet is replaced with tyrosine supplementation. Supplementing tyrosine in the diet can restore hair pigmentation to normal, but it has no effect on intellectual improvement. During the dietary treatment of restricting phenylalanine intake, the growth and development of the child, the level of phenylalanine in the blood, and the side effects should be closely observed. The side effects are mainly other nutritional deficiencies, which may cause diarrhea, anemia (macrocytic), hypoglycemia, hypoproteinemia, and niacin deficiency-like rash.