Patient's question:
The baby was diagnosed with phenylketonuria, which is very worrying. I want to know what to do if the child has phenylketonuria.Doctor's answer:
Phenylketonuria (PKU) is a common amino acid metabolic disorder caused by a deficiency of certain enzymes, which prevents phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. It follows an autosomal recessive inheritance pattern, influenced by the parents' genes. The main clinical diagnostic features include intellectual disability, neurological symptoms, eczema, skin scratch marks, depigmentation, and a mouse-like odor, as well as abnormal electroencephalogram (EEG) results.It is recommended that you take your child to a reputable tertiary hospital for evaluation and treatment. If early diagnosis and early intervention are achieved, the aforementioned clinical manifestations can be avoided, ensuring normal intelligence and complete recovery of abnormal EEG results. It is best to wait for the baby's follow-up test results before making further preparations.