{"title":"[Hydroxy-methyl-glutaryl-coenzyme A lyase deficiency manifesting as Reye's syndrome in a 3-year-old girl].","authors":"C Karcher, J M Rousselot, E Lefebvre, M Vidailhet","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>The authors report on one case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HMG-Co A lyase) deficiency in a 3 year-old girl, presenting as Reye's syndrome. Urinary organic profile suggested this inherited metabolic disease; decreased activity of HMG-Co A lyase was demonstrated in cultured fibroblasts. The metabolic etiologies of Reye's syndrome are summarized; clinical, biological, and therapeutic assessment of HMG Co A lyase deficiency are developed. The pattern of organic aciduria must be studied in all patients presenting with Reye's syndrome.</p>","PeriodicalId":19935,"journal":{"name":"Pediatrie","volume":"48 5","pages":"385-7"},"PeriodicalIF":0.0000,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatrie","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
The authors report on one case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HMG-Co A lyase) deficiency in a 3 year-old girl, presenting as Reye's syndrome. Urinary organic profile suggested this inherited metabolic disease; decreased activity of HMG-Co A lyase was demonstrated in cultured fibroblasts. The metabolic etiologies of Reye's syndrome are summarized; clinical, biological, and therapeutic assessment of HMG Co A lyase deficiency are developed. The pattern of organic aciduria must be studied in all patients presenting with Reye's syndrome.
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