Neurological manifestations in adults with phenylketonuria: new cases and review of the literature

ConclusionNeurological manifestations can complicate PKU in adult patients with elevated phenylalanine levels, after long or short period of diet discontinuation. Neurologists should be aware of this diagnosis, and measure phenylalaninemia in case of neurological symptoms associated with non-specific leucopathy on brain MRI. PKU patients should be systematically encouraged to continue their diet and their medical follow-up to avoid neurological complications.
Source: Journal of Neurology - Category: Neurology Source Type: research