Table 1

Phenylketonuria presenting in adulthood

Presenting complaint Examination MRI CSF 1-150Serum phenylalanine (μmol/l) Response to dietary phenylalanine restriction
Current caseProgressive gait and cognitive impairmentSpastic paraparesis with cognitive declineNormalOligoclonal bands2153Partial recovery
Weglage et al 12 Progressive gait and cognitive impairmentSpastic paraparesis with cognitive declineWhite matter plaques consistent with dysmyelinationNormal882Almost complete recovery
Ishimaru et al 13 Progressive gait and visual impairmentSpastic paraparesis with visual lossWhite matter plaques consistent with dysmyelinationNormal1663No recovery
  • 1-150 Normal range 25–81 μmol/l.