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Phenylketonuria Presenting in Adulthood as Progressive Spastic Paraparesis With Dementia JNNP 71:795-797, Kasim,S.,et al, 2001 See this aricle in Pubmed Article Abstract A 57 year old woman living independently in the community presented with four years of progressive spastic paraparesis and dementia. An extensive evaluation for the usual causes of these difficulties was unrevealing, but her serum phenylala nine concentration was markedly elevated and genetic analysis demonstrated mutations in the phenylalanine hydroxylase gene consistent with classic phyenylketonuria. A protein restricted diet was associated with improvement in her condition. Although unt reated phenylketonuria is typically associated with severe neurological dysfunction beginning in early childhood, this case shows that disability may be delayed until adulthood.

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(click to filter results - removes previous filter) dementia MRI,negative multiple sclerosis,differential diagnosis of multiple sclerosis,misdiagnosis paraparesis paraparesis,spastic phenylketonuria phenylketonuria,adult onset

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