Patient's question:
The baby was diagnosed with phenylketonuria shortly after birth. A heel blood sample was taken, and the doctor said the phenylalanine concentration was high. The baby appears relatively normal for now, with no special symptoms. We are preparing for a follow-up test, hoping everything is fine with the baby.Doctor's answer:
Phenylketonuria (PKU) is a common amino acid metabolism disorder caused by a deficiency in enzymes of the phenylalanine metabolic pathway, which prevents phenylalanine from being converted into tyrosine, leading to the accumulation and metabolism of phenylalanine and its ketone bodies in the urine. The main clinical manifestations include intellectual disability, seizures, and hyperpigmentation. This disease is inherited in an autosomal recessive manner. Active treatment should be initiated as soon as possible, with earlier treatment leading to better outcomes. A low-phenylalanine diet is primarily suitable for patients with typical phenylketonuria and those with sustained blood phenylalanine levels below 20 mg/dL.