Questions
What is Phenylketonuria (PKU)?
Answers
Phenylketonuria (PKU) is a chromosomal recessive genetic disorder. It is named so because infants with this condition have a phenylalanine metabolism disorder, leading to the excretion of large amounts of phenylpyruvate and other metabolic products in their urine. Phenylalanine is one of the essential amino acids in the body, which is ingested through food and used for protein synthesis or converted into other substances. In patients with PKU, phenylalanine cannot be metabolized normally and accumulates in the body, causing damage to the central nervous system and a series of pathological changes. Symptoms include hair turning from black to yellow, skin whitening, and lightening of the iris of the eyes. There may also be increased muscle tone, abnormal gait, fine tremors in the hands, repetitive movements of limbs, and other nervous system abnormalities. Parents should pay special attention to the fact that the baby’s urine has a very unpleasant smell like mouse urine. In addition, the baby may also have symptoms such as eczema, vomiting, and diarrhea. Treatment involves a low-phenylalanine diet, which ensures the supply of various nutrients needed for normal growth and development while avoiding excessive intake of phenylalanine. Immediate treatment should be sought upon diagnosis, as early treatment leads to better outcomes.