How is phenylketonuria confirmed?

Patient's question:

I don't know what's going on, but my child has been misbehaving and crying non-stop recently. Even the hospital check-ups haven't helped. How is phenylketonuria (PKU) diagnosed?

Doctor's answer:

Phenylketonuria can be diagnosed by testing phenylalanine levels in the blood. In addition to potentially recurring eczema, the most typical characteristic of phenylketonuria is a mouse-like odor emanating from the child, as well as impaired intellectual and physical development. The child may also exhibit symptoms such as restlessness, hyperactivity, or anorexia. The child's eczema may also be caused by an allergy to a certain substance or due to the child having an allergic constitution. It is best to take the child to the dermatology department of a hospital for a thorough examination and diagnosis to determine the specific condition of the rash, followed by targeted treatment.

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