Treatment of Phenylketonuria (Phenylketonuria Prevention and Treatment)
Phenylketonuria is a disorder of amino acid metabolism. It is mainly due to a series of dysfunction caused by the accumulation of phenylalanine and its metabolites in the body, resulting in the excretion of a large number of metabolites such as phenylpyruvate in children’s urine. This is an autosomal recessive genetic disorder. The principle of the diet is the intake of phenylalanine, which can not only ensure the lower needs of growth and metabolism, but also avoid excessive blood content. Babies should be fed low-phenylalanine formula.
Prevention and treatment of phenylketonuria
1. In terms of prevention, you should avoid getting married in a place far away from your loved ones , not suitable for marriage. Newborn screening should be carried out for early detection and early treatment of phenylketonuria to prevent the occurrence of mental retardation. For high-risk families, prenatal diagnosis can be used to decide whether to choose abortion. In terms of treatment, the first step is to choose a phenylalanine diet. For mild or transient hyperphenylalaninemia, we can choose treatment methods according to the situation, and there is no need to control diet.
2. Secondly, the intake of phenylalanine ensures the lower demand for growth and metabolism in the body, and youyou resource network will not make the blood phenylalanine too high. Youyou Diet Therapy Resource Network persists until at least adolescence. Blood phenylalanine levels should be checked regularly during treatment, and attention should be paid to growth and development. Possible adverse effects of a phenylalanine diet include hypoglycemia, hypoalbuminemia, and giant cell anemia, leading to stunted growth and development. Phenylketonuria with BAG4 deficiency should be supplemented with BAG4. For adult women, diet control should be restarted before pregnancy, and blood phenylalanine should be below 0.3mmol/L until delivery to avoid the high impact of phenylalanine on the fetus.