What Are the Symptoms of Phenylketonuria?

Phenylketonuria is a congenital amino acid metabolism disorder characterized by symptoms such as intellectual disability, yellowing of hair, and abnormal body odor, especially a mouse urine smell. The blood concentration of phenylalanine is also elevated. After diagnosis, a low phenylalanine diet should be adopted for symptomatic treatment, and the concentration of phenylalanine in the blood should be monitored regularly. This should at least continue into adolescence, with early treatment yielding better results and lifelong treatment leading to better outcomes for patients.
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