How is phenylketonuria treated in newborns?
Oct 09, 2023
Source: Cainiu Health
Dr. Lu Chengyu
Introduction
In general, phenylketonuria is a hereditary metabolic disorder. For newborns with phenylketonuria, treatment options include controlling phenylalanine intake, restricting protein consumption, discontinuing breastfeeding, increasing carbohydrate intake, and pharmacological therapy. In addition, fat intake may also be increased. Patients are advised to seek timely medical evaluation and treatment at a正规 hospital if they experience any discomfort.
Generally, phenylketonuria (PKU) is a hereditary metabolic disorder. Neonatal phenylketonuria can be managed through methods such as controlling phenylalanine intake, regulating protein consumption, discontinuing breastfeeding, increasing carbohydrate intake, and pharmacological treatment. Specific approaches are analyzed as follows:
1. Control of phenylalanine intake
Phenylketonuria results from a deficiency of phenylalanine hydroxylase, which prevents the conversion of phenylalanine into tyrosine, leading to the accumulation of phenylpyruvic acid in the body. By restricting phenylalanine intake, the level of phenylalanine in the body can be reduced, thereby alleviating symptoms.
2. Control of protein intake
Natural proteins contain high levels of phenylalanine, which is detrimental to the treatment of phenylketonuria.
3. Discontinuation of breastfeeding
Human breast milk contains abundant phenylalanine. Therefore, continuing breastfeeding for infants diagnosed with phenylketonuria may negatively affect their health.
4. Increase carbohydrate intake
Patients with phenylketonuria need to increase their proportion of carbohydrate intake to ensure adequate energy and nutritional supply.
5. Pharmacological treatment
Medications can promote phenylalanine metabolism and reduce amino acid concentrations in the body. Patients are advised to take medications such as sapropterin dihydrochloride tablets or allopurinol tablets as prescribed by a physician.
In addition, fat intake may also be increased. Patients are advised to seek timely medical evaluation and treatment at a qualified healthcare facility if any symptoms or discomfort arise.
