Phenylketonuria may go undetected if neonatal screening or other testing is not performed. This can result in a number of clinical findings.

Clinical findings that can be seen in untreated phenylketonuria:

(1) seizures, epilepsy

(2) Parkinsonism

(3) musty odor to sweat

(4) eczema

(5) decreased skin and hair pigmentation

(6) intellectual disability

(7) autism or other behavioral problems

(8) variable microcephaly


A woman with untreated phenylketonuria may have an infant with malformations (growth retardation, cardiac malformations, etc).

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