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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Children affected by this condition are normal at birth and in the neonatal period.

Developmental delay becomes apparent at about 3 months when the child fails to sit, walk, or talk at the appropriate times.

The IQ of untreated patients is usually under 50. Behavioural abnormalities and microencephaly is common, and seizures occur in about 25% of patients.

Other possible clinical features of the disease include light pigmentation, blue eyes, fair hair, eczema and mousy odour, unless treated by low phenylalanine diet.


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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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