The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.

IF 4.1

JPEN. Journal of parenteral and enteral nutrition Pub Date : 2021-11-01 Epub Date: 2021-05-25 DOI:10.1002/jpen.2121

Aslı İnci, Emine Aktaş, Filiz Başak Cengiz Ergin, İlyas Okur, Gürsel Biberoğlu, Fatih Süheyl Ezgü, Leyla Tümer

{"title":"The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.","authors":"Aslı İnci, Emine Aktaş, Filiz Başak Cengiz Ergin, İlyas Okur, Gürsel Biberoğlu, Fatih Süheyl Ezgü, Leyla Tümer","doi":"10.1002/jpen.2121","DOIUrl":null,"url":null,"abstract":"Background: The ketogenic diet (KD) is a low-carbohydrate, high-fat diet that has been used as an effective nonpharmacological treatment in many neurological and metabolic disorders for a long time. The effectiveness of the KD is revealed in mitochondrial disorders, mainly in pyruvate dehydrogenase deficiency.Case report: A 4-year-old girl who was diagnosed with an F-box and leucine-rich repeat protein 4 (FBXL4) gene mutation was hospitalized with sepsis. She was first given standard parenteral nutrition (PN) because of gastrointestinal problems. During the disease course, lactic acidosis became prominent and did not respond to pharmacological treatment; standard PN was gradually switched to parenteral KD, and lactate levels decreased after parenteral KD. The patient was discharged with an enteral KD.Conclusion: This is the first case of mitochondrial depletion syndrome effectively treated with parenteral KD for lactic acidosis.","PeriodicalId":520701,"journal":{"name":"JPEN. Journal of parenteral and enteral nutrition","volume":" ","pages":"1788-1792"},"PeriodicalIF":4.1000,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/jpen.2121","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"JPEN. Journal of parenteral and enteral nutrition","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/jpen.2121","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/5/25 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 1

Abstract

Background: The ketogenic diet (KD) is a low-carbohydrate, high-fat diet that has been used as an effective nonpharmacological treatment in many neurological and metabolic disorders for a long time. The effectiveness of the KD is revealed in mitochondrial disorders, mainly in pyruvate dehydrogenase deficiency.

Case report: A 4-year-old girl who was diagnosed with an F-box and leucine-rich repeat protein 4 (FBXL4) gene mutation was hospitalized with sepsis. She was first given standard parenteral nutrition (PN) because of gastrointestinal problems. During the disease course, lactic acidosis became prominent and did not respond to pharmacological treatment; standard PN was gradually switched to parenteral KD, and lactate levels decreased after parenteral KD. The patient was discharged with an enteral KD.

Conclusion: This is the first case of mitochondrial depletion syndrome effectively treated with parenteral KD for lactic acidosis.

查看原文本刊更多论文

第一例FBXL4突变成功地通过肠外生酮饮食治疗乳酸酸中毒。

背景:生酮饮食(KD)是一种低碳水化合物、高脂肪的饮食，长期以来一直被用作许多神经和代谢疾病的有效非药物治疗方法。KD在线粒体疾病，主要是丙酮酸脱氢酶缺乏症中的有效性被揭示出来。病例报告:一名4岁女孩被诊断为F-box和富亮氨酸重复蛋白4 (FBXL4)基因突变，因败血症住院。由于胃肠问题，她首先给予标准肠外营养(PN)。在病程中，乳酸性酸中毒变得突出，对药物治疗无反应;标准PN逐渐转换为肠外KD，经肠外KD后乳酸水平下降。患者经肠内KD治疗出院。结论:这是第一例经肠外KD治疗乳酸酸中毒的线粒体耗竭综合征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

JPEN. Journal of parenteral and enteral nutrition

自引率

0.00%

发文量