Neurological outcome in adult patients with early-treated phenylketonuria.

摘要: Due to the observation of severe neurological symptoms in single patients as well brain imaging, neuropsychological and neurophysiological abnormalities, long-term prognosis treated phenylketonuria is still under discussion. We investigated outcome 57 (24 male, 33 female) with (diet onset <3 months) at a mean age 23.6 (17–33) years comparison control subjects. Methods used were clinical-neurological examination, tests for fine motor abilities, IQ test (WAIS-R), attention task MRI (30 only). Tremor was increased (28%) compared controls (15%). Fine abilities significantly reduced three areas: hand-wrist steadiness, finger-hand dexterity speed. skills not associated treatment-related variables, e.g. diet onset, strictness biochemical or amount white matter change. lower (mean 97.6) matched subjects 105.5). 12 correlated from birth up remained stable adult age, independent after age. In contrast other parameters, performance influenced by concurrent plasma phenylalanine concentration. Specific late-onset impairment identified this sample early-treated adults phenylketonuria.