Pietz J
Department of Pediatric Neurology, University of Heidelberg, Germany.
Curr Opin Neurol. 1998 Dec;11(6):679-88. doi: 10.1097/00019052-199812000-00012.
Phenylketonuria, an autosomal recessively transmitted disorder of amino acid metabolism, is caused by a deficiency of hepatic phenylalanine hydroxylase converting phenylalanine to tyrosine. Thus, phenylalanine accumulates to plasma levels exceeding 1200 mumol/l. Untreated phenylketonuria is characterized by microcephaly, epilepsy, severe mental retardation and, in some cases, progressive supranuclear motor disturbances. These symptoms can largely be prevented by the early start of a phenylalanine-restricted diet. Neurological investigations of treated patients reveal only minor neurological signs, such as tremor or brisk deep tendon reflexes. Magnetic resonance imaging shows white matter abnormalities. However, in single patients, progressive neurological symptoms occurred. Thus, the long-term prognosis of treated phenylketonuria is still under discussion.
苯丙酮尿症是一种常染色体隐性遗传的氨基酸代谢紊乱疾病，由肝脏中负责将苯丙氨酸转化为酪氨酸的苯丙氨酸羟化酶缺乏所致。因此，苯丙氨酸在血浆中蓄积，水平超过1200微摩尔/升。未经治疗的苯丙酮尿症表现为小头畸形、癫痫、严重智力发育迟缓，在某些情况下还会出现进行性核上性运动障碍。通过早期开始限制苯丙氨酸饮食，这些症状在很大程度上可以得到预防。对接受治疗的患者进行神经学检查仅发现轻微的神经学体征，如震颤或腱反射亢进。磁共振成像显示白质异常。然而，个别患者会出现进行性神经症状。因此，苯丙酮尿症患者经治疗后的长期预后仍在讨论之中。
