Neurological outcome in adult patients with early-treated phenylketonuria

• Verfasst von: Pietz, Joachim [VerfasserIn]
• Verfasst von: Dunckelmann, Robert [VerfasserIn]
• Verfasst von: Rupp, André [VerfasserIn]
• Verfasst von: Rating, Dietz [VerfasserIn]
• Verfasst von: Meinck, Hans-Michael [VerfasserIn]
• Verfasst von: Schmidt, Hildgund [VerfasserIn]
• Verfasst von: Bremer, Hans J. [VerfasserIn]
• Titel: Neurological outcome in adult patients with early-treated phenylketonuria
• Verf.angabe: J. Pietz, R. Dunckelmann, A. Rupp, D. Rating, H.-M. Meinck, H. Schmidt, H.J. Bremer
• E-Jahr: 1998
• Jahr: September 1998
• Umfang: 7 S.
• Fussnoten: Gesehen am TT.MM.JJJ
• Titel Quelle: Enthalten in: European journal of pediatrics
• Ort Quelle: Berlin : Springer Science & Business Media B.V., 1975
• Jahr Quelle: 1998
• Band/Heft Quelle: 157(1998), 10, Seite 824-830
• ISSN Quelle: 1432-1076
• DOI: doi:10.1007/s004310050945
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Key words Intelligence
• Sach-SW: Neurology
• Sach-SW: Neuropsychology
• Sach-SW: Phenylketonuria
• K10plus-PPN: 1891533398

Abstract

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