Phenylketonuria is a common genetic disorder in infants. pku treatment The inability to metabolize phenylalanine properly leads to malnutrition, mental retardation or epilepsy, which is very dangerous to the health of the patient and causes suffering to the child and his or her family.
The amino acids in the body are divided into essential amino acids and essential amino acids, which cannot be synthesized and must be obtained from food.
After birth, as the body ages, the amount of phenylalanine needed for protein synthesis decreases slowly, mainly through the oxidation of phenylalanine to tyrosine by the enzyme phenylalanine hydroxylase.
If the level of enzyme activity in the infant is low or insufficient, phenylalanine accumulates in the body and is converted to phenyl pyruvate through other metabolic pathways.
Large amounts of phenylpyruvate are deposited in tissues, blood plasma, and cerebrospinal fluid, and are also excreted in the urine, resulting in phenylketonuria.
Understanding the pathogenesis and risks of Phenylketonuria, genetic diseases are more difficult to cure than other diseases, and prevention is especially important.
This includes banning consanguineous marriage, providing genetic counseling for families expecting a child, and reducing the birth rate of affected children, depending on the outcome of the decision to terminate the pregnancy.
Families with existing cases of phenylketonuria (e.g., families planning to have a second child) should be diagnosed in the prenatal period through techniques such as recombinant dna; to promote breastfeeding
In order to promote breastfeeding, the body should be checked three days after birth for Phenylketonuria levels above the normal mark, and early diagnosis and treatment should be carried out to avoid the occurrence of the disease.