Patient's question:
What is the normal value of phenylketonuria? The initial check is 2.6, and the follow-up check is 2.3.Doctor's answer:
Phenylketonuria is a genetic disease caused by a deficiency of enzymes in the phenylalanine metabolic pathway, 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. The main symptoms include intellectual disability, recurrent seizures, and hypopigmentation.In normal individuals, the blood phenylalanine concentration is 1–3 mg/dL, while in patients with phenylketonuria, the blood phenylalanine level can be as high as 20 mg/dL or more.
Recommendation: You can visit a hospital for genetic counseling to screen for phenylketonuria.
Provide the hospital with a detailed test report. It is best to take a photo and upload it.