A treatable inborn error of metabolism presenting in the sixth decade
Sarah-Jane Martin,
Amy Davidson,
Sheena Murdoch
et al.
Abstract:Phenylketonuria (PKU) is an inborn error of amino acid metabolism. If untreated, PKU can result in global developmental delay, learning difficulties or seizures. For that reason, PKU is included in the UK neonatal screening programme. We describe a patient in his sixth decade presenting with progressive cognitive decline and spasticity, in whom a diagnosis of PKU was eventually reached. We note that although we currently have a robust neonatal screening programme, this has not always been the case. Patients bo… Show more
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