Mitochondrial encephalomyopathy, lactic acidosis and stroke in adults: two cases
作者: H. P. H. KremerA. KeyserA. R. WintzenH. R. ScholteJ. G. M. Hellenberg HubarB. J. H. M. PoorthuisW. Ruitenbeek
作者单位: 1Department of Neurology, University Hospital Leiden
2Institute of Neurology, Catholic University Nijmegen
3Department of Biochemistry I, Erasmus University
4Department of Paediatrics, University Hospital Leiden
5Institute of Paediatrics, Catholic University Nijmegen
6Department of Medical Genetics, University of British Columbia
刊名: Journal of Neurology, 1993, Vol.240 (4), pp.219-222
来源数据库: Springer Nature Journal
DOI: 10.1007/BF00818708
关键词: actic acidosisMELASMitochondrial encephalomyopathyStroke
英文摘要: Abstract(#br)Two previously healthy women are described who in their late thirties suffered transient strokelike episodes, consisting of initial headache and vomiting, with various subsequent neurological signs that were only partially reversible. Investigations revealed elevated serum creatine kinase, lactic acidosis, hypertriglyceridaemia, and ragged red fibres in the muscle biopsy specimens. In both patients in vitro studies were performed on intact muscle mitochondria and muscle homogenate. Only in one was a mitochondrial defect found, located at the level of coenzyme Q. We conclude that these patients suffered from adult-onset mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS syndrome). Although the syndrome is often associated with long-standing...
全文获取路径: Springer Nature  (合作)
影响因子:3.578 (2012)

  • lactic 乳汁的
  • two cases 两起案件
  • stroke 笔划
  • acidosis 酸中毒