[3岁女孩羟甲基戊二酰辅酶A裂解酶缺乏，表现为雷氏综合征]。

Pediatrie Pub Date : 1993-01-01

C Karcher, J M Rousselot, E Lefebvre, M Vidailhet

{"title":"[3岁女孩羟甲基戊二酰辅酶A裂解酶缺乏，表现为雷氏综合征]。","authors":"C Karcher, J M Rousselot, E Lefebvre, M Vidailhet","doi":"","DOIUrl":null,"url":null,"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.","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":"{\"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\":\"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.\",\"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}","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

摘要

作者报告了一例3-羟基-3-甲基戊二酰辅酶A裂解酶(HMG-Co - A裂解酶)缺乏症在一个3岁的女孩，表现为雷氏综合征。泌尿器官特征提示为遗传性代谢性疾病;培养成纤维细胞中HMG-Co - A裂解酶活性降低。综述了雷氏综合征的代谢病因;HMG Co A裂解酶缺乏症的临床，生物学和治疗评估。必须对所有雷氏综合征患者的有机酸尿模式进行研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

微信好友朋友圈 QQ好友复制链接

本刊更多论文

[Hydroxy-methyl-glutaryl-coenzyme A lyase deficiency manifesting as Reye's syndrome in a 3-year-old girl].

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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Pediatrie

自引率

0.00%

发文量