Patient's question:
The newborn's hair and skin are normal, and the urine is also normal, but after blood collection, it was found that the child's PKU value is high, which may indicate phenylketonuria. A retest is scheduled in a few days. The family is unaware of what this disease is and is very worried, not daring to feed the child anything. What kind of help is needed: How to deal with high PKU in newborns?Doctor's answer:
Phenylketonuria (PKU) is a genetic metabolic disorder that can lead to congenital intellectual disability in children. Due to a deficiency of phenylalanine hydroxylase in affected individuals, ingested phenylalanine cannot be properly metabolized and instead converts into phenylpyruvate, which is excreted in urine and sweat, producing an unusual odor—hence the name phenylketonuria. Treatment for this condition requires tailored measures based on the subtype. For moderate-severe and classic PKU, the only treatment is increasing phenylalanine intake through diet, with daily intake levels carefully maintained to avoid brain damage while ensuring adequate growth and development. Tetrahydrobiopterin-responsive phenylketonuria is treated with special phenylalanine-free formula or protein powder.