Pierzchała K, Rościszewska D, Kwieciński J
II Katedry i Kliniki Neurologii Sl. AM, Zabrzu.
Neurol Neurochir Pol. 1993 Nov-Dec;27(6):899-904.
A young male with phenylketonuria diagnosed in his 9-th month of life is presented. At the age of 20 years signs of central nervous system involvement became more pronounced, with extrapyramidal syndrome and with simultaneous very striking increase of phenylalanine level. The neurological signs were reduced after administration of Levodopa (Nakom) and return to more strict diet and Lofenalac.
本文报告了一名在9个月大时被诊断出患有苯丙酮尿症的年轻男性。20岁时,中枢神经系统受累的症状变得更加明显,出现锥体外系综合征,同时苯丙氨酸水平显著升高。服用左旋多巴(纳科姆)、恢复更严格的饮食并使用洛芬那拉克后,神经症状有所减轻。