Patient's question:
My child has just celebrated his birthday, and after diagnosis, he was found to have phenylketonuria. I would like to ask: Can my child eat some fruits, such as apples and bananas, or vegetables, meat, and egg products while taking medication as prescribed by the doctor? I kindly request that the experts provide an answer. Thank you.Doctor's answer:
Phenylketonuria Phenylketonuria (PKU) is a common autosomal recessive genetic disease. It is named after the large amount of phenylpyruvate and other metabolites excreted in the urine due to the metabolic disorder of phenylalanine in infants. Phenylalanine is one of the essential amino acids for the human body. After being ingested through food, part of it is used by the body for protein synthesis, while the rest is converted into other substances. When phenylalanine cannot be metabolized normally in the body of an infant and accumulates, it can cause damage to the central nervous system and a series of pathological changes.Signs of the Disease Infants with the disease will gradually show symptoms such as hair turning from black to yellow, skin becoming pale, and iris of the eyes becoming lighter. Neurological abnormalities may also include increased muscle tone, abnormal gait, fine tremors in the hands, and repetitive movements of limbs. Particularly noteworthy for parents is the very strong, musty odor of mouse urine in the infant's urine. Additionally, infants may be prone to conditions such as eczema, vomiting, and diarrhea.
Treatment Treatment involves a low-phenylalanine diet, which must ensure the supply of various nutrients needed for the normal growth and development of the infant while avoiding excessive intake of phenylalanine. Once diagnosed, treatment should be started immediately, as the earlier the treatment begins, the better the prognosis.