Patient's question:
The child is now about one year old and has poor health. The hospital conducted a thorough examination and diagnosed phenylketonuria. I would like to consult about the symptoms of phenylketonuria in newborns.Doctor's answer:
Phenylketonuria symptoms include mental retardation, neurological symptoms, eczema, skin scratches, depigmentation, and a mouse-like smell in urine, among others. EEG abnormalities may occur. The inheritance pattern is autosomal recessive, skipping generations. Early symptoms such as nausea, irritability, and restlessness may also reappear. If early diagnosis and treatment are achieved, the above clinical manifestations may never occur again, intelligence may remain normal, and EEG abnormalities may be completely restored. Phenylketonuria is a genetic disease caused by a lack of phenylalanine hydroxylase or reduced liver activity. Hereditary amino acid metabolism disorders are more common. In daily life, attention should be paid to a light diet for the baby, and it is important to let the baby rest more.