What are the symptoms of phenylketonuria?

Infants with PKU appear normal at birth. Many have blue eyes and fairer hair and skin than other family members.
Currently, most symptoms of untreated PKU are avoided by newborn screening, early identification, and management.

The following describes untreated PKU symptoms-currently a rarity:

About 50% of untreated infants have early symptoms, such as vomiting, irritability, an eczema-like rash, and a mousy odor to the urine. Some may also have subtle signs of nervous system function problems, such as increased muscle tone, and more active muscle tendon reflexes. Later, severe brain problems occur, such as mental retardation and seizures. Other commonly noted features in untreated children include: microcephaly (small head), prominent cheek and upper jaw bones with widely spaced teeth, poor development of tooth enamel, and decreased body growth.

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