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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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dementia
MRI,negative
multiple sclerosis,differential diagnosis of
multiple sclerosis,misdiagnosis
paraparesis
paraparesis,spastic
phenylketonuria
phenylketonuria,adult onset

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