Symptoms of Phenylketonuria

"Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.

Other symptoms may include:
Delayed mental and social skills
Head size significantly below normal
Hyperactivity
Jerking movements of the arms or legs
Mental retardation
Seizures
Skin rashes
Tremors
Unusual positioning of hands

If the condition is untreated or foods containing phenylalanine are not avoided, a "mousy" or "musty" odor may be detected on the breath and skin and in urine. The unusual odor is due to a build up of phenylalanine substances in the body."

Adapted from

• Phenylketonuria - Symptoms, Diagnosis, Treatment of Phenylketonuria - NY Times Health Information . 2013. Phenylketonuria - Symptoms, Diagnosis, Treatment of Phenylketonuria - NY Times Health Information . [ONLINE] Available at: http://health.nytimes.com/health/guides/disease/phenylketonuria/overview.html. [Accessed 13 January 2013].