Question

What Are the Diagnostic Criteria for Phenylketonuria?

Answer

Phenylketonuria is a type of congenital metabolic disease with autosomal recessive inheritance. The diagnostic criteria include genetic testing, determination of phenylalanine concentration in the blood, and clinical symptom assessment. Having a family member with phenylketonuria can also serve as a reference for diagnosis. The best treatment method is through dietary control, using low-protein foods.