Patient's question:
Daughter is just one month old. During blood collection, it was found that she suffers from phenylketonuria. How is it treated? Can it be cured completely? What should be paid attention to in daily life? What is phenylketonuria in infant blood collection?Doctor's answer:
Phenylketonuria is a common amino acid metabolism disorder, and it is a congenital metabolic disease. Neurological abnormal signs are rare, such as microcephaly, increased muscle tone, abnormal gait, hyperreflexia, slight hand tremors, and repetitive limb movements. Due to albinism, children often have yellow hair, pale skin, and light-colored irises. This disease is one of the few sexually transmitted metabolic diseases, and it is difficult to change its intellectual and developmental growth. To prevent neurological damage, early diagnosis and treatment should be carried out. Because children are asymptomatic in the early stages, laboratory tests must be performed. Once diagnosed, active treatment should be provided as soon as possible, primarily through dietary treatment.