Glucagon-like peptide-1 receptor agonists (GLP1RA) in the management of mitochondrial diabetes in an adolescent: A Case Report.

IF 2.7 3区医学 Q3 ENDOCRINOLOGY & METABOLISM

Hormone Research in Paediatrics Pub Date : 2026-04-18 DOI:10.1159/000552014

Eadaoin Hayes, Ann Nillsen, Peter W Rowe, Aris Siafarikas, Mary B Abraham

{"title":"Glucagon-like peptide-1 receptor agonists (GLP1RA) in the management of mitochondrial diabetes in an adolescent: A Case Report.","authors":"Eadaoin Hayes, Ann Nillsen, Peter W Rowe, Aris Siafarikas, Mary B Abraham","doi":"10.1159/000552014","DOIUrl":null,"url":null,"abstract":"Introduction: Mitochondrial diabetes is rare and typically treated with dietary intervention and oral hypoglycaemic agents. Most require insulin. Novel treatments are available but are not well-characterised.Presentation: A 16-year-old adolescent girl with a genetically confirmed diagnosis of MELAS due to a m.3243A>G presented with clinical and biochemical features of diabetes. She was successfully transitioned from subcutaneous insulin therapy to weekly GLP1RA monotherapy shortly after diagnosis of diabetes. Treatment with 0.25mg semaglutide SC weekly led to a reduction in HbA1c from 13.7% (126mmol/mol) to 5.6% (38mmol/mol) over a 7-month period. Insulin was completely ceased within 5 days of starting semaglutide. CGM data from a 5 month follow up period are presented, which demonstrate CGM data meeting glycaemic targets.Conclusion: Low-dose semaglutide 0.25mg sc weekly was efficacious and well tolerated without lactic acidosis. Use of GLP1RA could be considered a novel and effective treatment in the pharmacological management of paediatric mitochondrial diabetes.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-16"},"PeriodicalIF":2.7000,"publicationDate":"2026-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hormone Research in Paediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000552014","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}

引用次数: 0

Abstract

Introduction: Mitochondrial diabetes is rare and typically treated with dietary intervention and oral hypoglycaemic agents. Most require insulin. Novel treatments are available but are not well-characterised.

Presentation: A 16-year-old adolescent girl with a genetically confirmed diagnosis of MELAS due to a m.3243A>G presented with clinical and biochemical features of diabetes. She was successfully transitioned from subcutaneous insulin therapy to weekly GLP1RA monotherapy shortly after diagnosis of diabetes. Treatment with 0.25mg semaglutide SC weekly led to a reduction in HbA1c from 13.7% (126mmol/mol) to 5.6% (38mmol/mol) over a 7-month period. Insulin was completely ceased within 5 days of starting semaglutide. CGM data from a 5 month follow up period are presented, which demonstrate CGM data meeting glycaemic targets.

Conclusion: Low-dose semaglutide 0.25mg sc weekly was efficacious and well tolerated without lactic acidosis. Use of GLP1RA could be considered a novel and effective treatment in the pharmacological management of paediatric mitochondrial diabetes.

查看原文本刊更多论文

胰高血糖素样肽-1受体激动剂（GLP1RA）在青少年线粒体糖尿病的管理：一个案例报告。

线粒体糖尿病是罕见的，通常通过饮食干预和口服降糖药治疗。大多数需要胰岛素。新的治疗方法是可用的，但没有很好的特征。报告：一名16岁的青春期女孩，因m.3243A>G基因确诊为MELAS，并表现出糖尿病的临床和生化特征。在诊断出糖尿病后不久，她成功地从皮下胰岛素治疗过渡到每周一次的GLP1RA单药治疗。每周0.25mg semaglutide SC治疗导致HbA1c在7个月期间从13.7% （126mmol/mol）降低到5.6% （38mmol/mol）。使用西马鲁肽后5天内胰岛素完全停用。5个月随访期间的CGM数据显示，CGM数据符合血糖目标。结论：小剂量西马鲁肽0.25mg sc周有效，耐受性好，无乳酸性酸中毒。GLP1RA的使用可以被认为是一种新的和有效的治疗儿科线粒体糖尿病的药物管理。

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

Hormone Research in Paediatrics ENDOCRINOLOGY & METABOLISM-PEDIATRICS

CiteScore

4.90

自引率

6.20%

发文量

审稿时长

4-8 weeks

期刊介绍： The mission of ''Hormone Research in Paediatrics'' is to improve the care of children with endocrine disorders by promoting basic and clinical knowledge. The journal facilitates the dissemination of information through original papers, mini reviews, clinical guidelines and papers on novel insights from clinical practice. Periodic editorials from outstanding paediatric endocrinologists address the main published novelties by critically reviewing the major strengths and weaknesses of the studies.