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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Specialty: Endocrinology, Clinical Laboratory, Genetics
