Prevention and treatment of phenylketonuria

World Health:Phenylketonuria is a disorder of pku handbook amino acid metabolism. The main reason is that a series of management functions are abnormal due to accumulation o...

Mar 22,2022 | Josie

pku handbook

Phenylketonuria is a disorder of pku handbook amino acid metabolism. The main reason is that a series of management functions are abnormal due to accumulation of phenylalanine and its metabolites in the body, resulting in the excretion of a large amount of metabolites such as phenylpyruvate in the urine of some children, which is an autosomal recessive genetic disease. The principle that diet can treat is the intake of phenylalanine, which can not only effectively ensure the minimum living needs of enterprise growth and metabolism, but also avoid excessive blood content requirements. An infant should be given low-phenylalanine yogurt. Powder feeding.

Prevention and treatment of phenylketonuria

In terms of prevention, it is necessary to avoid distant marriages. For early detection and treatment of phenylketonuria and prevention of mental retardation, newborn screening is not required. Prenatal diagnosis for high-risk families can decide whether to choose induced abortion, and phenylalanine diet is the first choice in treatment. For mild or transient phenylalanine disease, treatment can be selected according to the situation without diet control.

figure 2. Second, throughout the course of dietary therapy, at least until puberty, the intake of l-phenylalanine should be regularly monitored to pay attention to growth and development. L-Phenylalanine ensures minimal requirements for growth and metabolism without excess L-Phenylalanine in the blood. Possible side effects of the L-phenylalanine diet include hypoglycemia, hypoalbuminemia, macrocytic anemia and developmental delay, as well as bag4 deficiency phenylketonuria, resumption of eating in adult women before pregnancy, blood phenylketonuria before childbirth Alanine should be below 0.3 mmol/l to avoid high l-phenylalanine affecting the fetus.

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