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94例苯丙酮尿症的脑电图分析 被引量:1

Analysis on EEG in 94 patients with phenylketonuria
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摘要 本文分析94例苯丙酮尿症患者的脑电图,结果异常率为65%,异常表现以痫样放电为主80%,少数为背景活动异常(20%)。年龄越大,脑电图异常程度越重,提示早期治疗可防止或减轻脑损害。有抽搐和智力障碍表现或血苯丙氨酸浓度增高者,脑电图异常程度明显。经治疗后血苯丙氨酸浓度下降,脑电图亦明显改善。提示脑电图可以作为评价本病苯丙氨酸对脑的毒性作用的敏感指标。 Abstract The EEG in 94 patients with phenylketonuria was analyzed.The abnormality rate of EEG was 65%,mainly showing epileptiform discharges(80%),partly showing background activity abnormality(20%).The older the patients,the greater abnormalities,indicating that the brain damage could be prevented or reduced by early treatment.However,patients with convulsions.mental retardation and/or a high blood concentration of phenylalanine exhibited a apparent EEG abnormalities.The concentration of phenylalanine decreased and the EEG abnormalities improved after treatment.These results suggested that the EEG might be served as a sensitive index for evaluating the toxic effects of phenylalanine on the brain.
出处 《临床脑电学杂志》 1995年第3期139-141,共3页
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  • 1沈明,喻唯民,徐力,李大维,霍力岩,万芳.苯丙酮尿症患儿发育商与早期干预初步探讨[J].中日友好医院学报,1994,8(3):151-154. 被引量:5
  • 2薛启蓂 喻唯民.氨基酸代谢病[A].见:何凤生 薛启蓂主编.神经系统中毒及代谢性疾病[C].北京:人民军医出版社,2002.269-297.
  • 3Kayaalp E, Treaey E, Waters PJ, et al. Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.Am J Hum Genet, 1997, 61(6):1309-1317.
  • 4Zhou ZSH, Yu WM, Fukuyama YK, et al. Clinical analysis of West syndrome associated with phenylketonuria.Brain Develop, 2001, 23(3):552-557.
  • 5Yu WM. Retrospective review of diagnosis and treatment for PKU in China-Japan Friendship Hospital. J Jap Society Inherit Metab Dis, 2001, 17(2):232.
  • 6Yu WM, Li XW, Jin YY, et al. A study of 230 eases of phenylketonuria in China. In: Stephen TS Lain, Calving CP Pang eds. Neonatal and perinatal screening. Hong Kong:The Chinese University of Hong Kong, 1996, 75-79.
  • 7Blau N, Thony B, Spada M, et al. Tetrahydrobiopterin and inherited hyperphenylalaninemias. Turk J Pediatr, 1996,38:19-35.
  • 8Jardim LB, Giugliam R, Coelho JC, et al. Possible high frequency of tetrahydrobiopterin deficiency in south Brazil.J Inherit Metab Dis, 1994, 17:223-225.
  • 9Liu TT, Lu SF, Hsiao KJ, et al. Genomic structure of 6-pyruvoyl-tetrahydropterin synthase gene and a T/C polymorphism detected in Chinese. J Biomed Lab Sci, 1998, 10(1)39-47.
  • 10Yu WM, Liu TY, Chang M, et al. The study of tetrahydrobiopterin deficiency in northern Chinese with hyperphenylalaninemia. J Inherit Metab Dis, 2000, 23(Suppl.1):43.

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