Phenylketonuria natural history, complications and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Natural History

If a child is not screened at birth (e.g. in home deliveries), the disease may present clinically with seizures, albinism (excessively fair hair and skin), and a "musty odor" to the baby's sweat and urine (due to phenylacetate, one of the ketones produced).

Untreated children are normal at birth, but fail to attain early developmental milestones, develop microcephaly, and demonstrate progressive impairment of cerebral function. Hyperactivity, EEG abnormalities and seizures, and severe mental retardation are major clinical problems later in life. A "musty" odor of skin, hair, sweat and urine (due to phenylacetate accumulation); and a tendency to hypopigmentation and eczema are also observed.

In contrast, affected children who are detected and treated at birth are less likely to develop neurological problems and have seizures and mental retardation, though such clinical disorders are still possible.

Complications

Complications are seen both in treated and untreated patients, but are more frequently seen in the second group, and in the patients that are lately diagnosed.

Neurocognitive aspects such as IQ, processing speed, attention, inhibition, and motor control can be affected, PKU is also associated with low self-esteem,lower achievement motivation, decreased autonomy, decreased social competence,  and possible increased risk for depressed mood, generalized anxiety and social isolation.