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瓜氨酸血症Ⅱ型1例 被引量：5

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摘要 1病例介绍 患者,男,33岁。因阵发性头晕7年余,加重6个月入院。入院前7年每于劳累后感头晕,双上肢不自主抖动。入院前6个月,患者头晕发作频率进行性增加,伴行走不稳,并出现注意力、定向力下降,外院头颅MR提示双侧大脑半球皮质及皮质下白质、双侧皮质脊髓束走行区、双侧小脑齿状核异常信号改变。近2个月来,患者头晕发作时伴意识不清,大汗淋漓,脑电图提示痫性放电可能,肌电图：
作者 刘胜达
机构地区 北京航天总医院
出处 《疑难病杂志》 CAS 2014年第12期1304-1305,共2页 Chinese Journal of Difficult and Complicated Cases
关键词 瓜氨酸血症Ⅱ型 临床症状 诊断 治疗
分类号 R575 [医药卫生—消化系统]
  • 相关文献

参考文献13

  • 1Takahashi Y,Koyama S,Tanaka H.An elderly Japanese patient with adult-onset type II citruUinemia with a novel D493G mutation in the SLC25A13 gene[J].Intern Med,2012,51(16):2131-2134.
  • 2Sakamoto S,Shinno H,Ikeda M.A patient with type II citruUinemia who developed refractory complex seizure[J].Gen Hosp Psychiatry,2013,35(1):103.
  • 3Noto D,Takahashi K,Hamaguchi T.A case of adult onset type II citruUinemia with portal-systemic shunt[J].J Neurol Sci,2009,281(1-2):127-129.
  • 4Rhee Y,Heaton T,Keegan C,et al.CitruUinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant[J].Clin Pract,2013,3(1):e2.
  • 5Larovere I.E,Ruiz SM,Angaroni CJ,et al.Molecular epidemiology of citruUinemia type I in a risk region of Argentina:a first step to preconception heterozygote detection[J].JIMD Rep,2012,6:27-29.
  • 6Kim BS,Joo SH,Lee SH.Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia[J].J Korean Surg Soc,2011,80(Suppl 1):S51-54.
  • 7Wu TF,Liu YP,Li XY,et al.Prenatal diagnosis of citrullinemia type I:a Chinese family with a novel mutation of the ASS1 gene[J].Brain Dev,2014,36(3):264-267.
  • 8胡平,周小燕,马定远,孙云,张晓娟,韩树萍,余章斌,蒋涛,陈玉林,许争峰.新生儿瓜氨酸血症ASSl基因错义突变（c．970G〉A）的分子鉴定[J].中华医学遗传学杂志,2011,28(6):630-633. 被引量：10
  • 9Nakamura M,Yazaki M,Kobayashi Y.The characteristics of food intake in patients with type II citrullinemia[J].J Nutr Sci Vitaminol(Tokyo),2011,57(3):239-245.
  • 10Kogure T,Kondo Y,Kakazu E.Three cases of adult-onset type II citruUinemia treated with different therapies;Efficacy of sodium pyruvate and low-carbohydrate diet[J].Hepatol Res,2014,44(6):707-712.

二级参考文献9

  • 1Saheki T, Kobayashi K, Ichiki H, et al. Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to eitrullinemia and argininosuccinic aciduria. Enzyme, 1987, 38(1-4): 227-232.
  • 2Marquis-Nicholson R, Glamuzina E, Prosser D, et al. Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis. Genet Mol Res, 2010, 9:1483-1489.
  • 3Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, et al. eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001. 1909-1963.
  • 4Haberle J, Pauli S, Schmidt E, et al. Mild citrullinernia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol Genet Metab, 2003, 80: 302-306.
  • 5Haberle J, Pauli S, Linnebank M, et al. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. Hum Genet, 2002, 110: 327-333.
  • 6Engel K, Hohne W, Haberle J. Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. Hum Murat, 2009, 30: 300-307.
  • 7Gao HZ, Kobayashi K, Tabata A, et al. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical eitrullinemia patients. Hum Mutat, 2003, 22: 24-34.
  • 8Berning C, Bieger I, Pauli S, et al. Investigation of citrullinemia type I variants by in-vitro expression studies. Hum Murat, 2008, 29: 1222-1227.
  • 9陈玉林,余章斌,韩树萍,朱春,邱玉芳,沙莉,董小玥,孙青.新生儿瓜氨酸血症1例报道并文献复习[J].中国循证儿科杂志,2010,5(6):452-457. 被引量：15

共引文献9

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引证文献5

二级引证文献16

疑难病杂志
2014年 第12期

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