Question
The blood phenylalanine concentration from the initial check was 2.6 mg/dl. What is the normal range?
Answer
Phenylketonuria is a genetic disorder caused by an enzyme defect in the phenylalanine metabolic pathway. This leads to the inability of phenylalanine to be converted into tyrosine, resulting in the accumulation of phenylalanine and its ketoacids in the body, which are then excreted in large quantities through urine. The main symptoms include intellectual disability, seizures, and reduced pigmentation. The normal range of phenylalanine concentration in the blood of healthy individuals is 1 to 3 mg/dl, while in patients with phenylketonuria, the blood phenylalanine concentration can exceed 20 mg/dl. Suggestions:
- Conduct genetic counseling to rule out phenylketonuria.
- Provide detailed test reports, and it is best to upload photos of them.