以肝纤维化和新型甲戊酸激酶突变为特征的儿童甲戊酸尿症

The open pediatric medicine journal Pub Date : 2009-06-03 DOI:10.2174/1874309900903010045

M. Harel-Meir, Y. Bujanover, Y. Berkun, N. Goldstein, Y. Anikster

{"title":"以肝纤维化和新型甲戊酸激酶突变为特征的儿童甲戊酸尿症","authors":"M. Harel-Meir, Y. Bujanover, Y. Berkun, N. Goldstein, Y. Anikster","doi":"10.2174/1874309900903010045","DOIUrl":null,"url":null,"abstract":"Mevalonic aciduria (MVA) is an inborn error of isoprene biosynthesis caused by mevalonate kinase (MVK) gene mutations. Described below is a case of a Palestinian MVA patient suffering from prolonged fevers as well as from hepatic fibrosis - a rare feature of MVA. Also demonstrated is a unique genotype - heterozigosity of two novel MVK mu- tations; V8F (t25a), and F38I (t112a).","PeriodicalId":89037,"journal":{"name":"The open pediatric medicine journal","volume":"3 1","pages":"45-47"},"PeriodicalIF":0.0000,"publicationDate":"2009-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":"{\"title\":\"Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and Novel Mevalonate Kinase Mutations\",\"authors\":\"M. Harel-Meir, Y. Bujanover, Y. Berkun, N. Goldstein, Y. Anikster\",\"doi\":\"10.2174/1874309900903010045\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Mevalonic aciduria (MVA) is an inborn error of isoprene biosynthesis caused by mevalonate kinase (MVK) gene mutations. Described below is a case of a Palestinian MVA patient suffering from prolonged fevers as well as from hepatic fibrosis - a rare feature of MVA. Also demonstrated is a unique genotype - heterozigosity of two novel MVK mu- tations; V8F (t25a), and F38I (t112a).\",\"PeriodicalId\":89037,\"journal\":{\"name\":\"The open pediatric medicine journal\",\"volume\":\"3 1\",\"pages\":\"45-47\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2009-06-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The open pediatric medicine journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2174/1874309900903010045\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The open pediatric medicine journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2174/1874309900903010045","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 4

摘要

Mevalonic aciduria (MVA)是由Mevalonic kinase (MVK)基因突变引起的先天性异戊二烯生物合成错误。下面描述的是一个巴勒斯坦MVA患者长期发烧以及肝纤维化的病例- MVA的罕见特征。同时还证实了两个新的MVK突变具有独特的基因型异质性;V8F (t25a)和F38I (t112a)。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and Novel Mevalonate Kinase Mutations

Mevalonic aciduria (MVA) is an inborn error of isoprene biosynthesis caused by mevalonate kinase (MVK) gene mutations. Described below is a case of a Palestinian MVA patient suffering from prolonged fevers as well as from hepatic fibrosis - a rare feature of MVA. Also demonstrated is a unique genotype - heterozigosity of two novel MVK mu- tations; V8F (t25a), and F38I (t112a).

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

The open pediatric medicine journal

自引率

0.00%

发文量