Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review

ConclusionPKU with clinical features presenting in adulthood is an atypical subtype and should be considered during diagnosis of adults with neurological symptoms and leukoencephalopathy. DWI seems to be most helpful to distinguish patients with PKU. Additionally, we demonstrate that PKU constitutes a part (3.1%) of adult genetic leukoencephalopathies.
Source: Journal of Neurology - Category: Neurology Source Type: research