U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mitochondrial Diabetes

MedGen UID:
1384794
•Concept ID:
C4330695
•
Disease or Syndrome

Definition

Diabetes mellitus caused by mutation(s) in mitochondrial DNA. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial Diabetes

Professional guidelines

PubMed

Friedreich's Ataxia related Diabetes: Epidemiology and management practices.
Tamaroff J, DeDio A, Wade K, Wells M, Park C, Leavens K, Rummey C, Kelly A, Lynch DR, McCormack SE
Diabetes Res Clin Pract 2022 Apr;186:109828. Epub 2022 Mar 14 doi: 10.1016/j.diabres.2022.109828. PMID: 35301072Free PMC Article
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A
Pediatr Diabetes 2015 Feb;16(1):1-9. Epub 2014 Oct 20 doi: 10.1111/pedi.12223. PMID: 25330715
Problems in differential diagnosis of diabetes types.
Małecki M, Skupień J
Pol Arch Med Wewn 2008 Jul-Aug;118(7-8):435-40. PMID: 18714740

Recent clinical studies

Etiology

Contribution of mitochondrial gene variants in diabetes and diabetic kidney disease.
Li M, Gong S, Han X, Zhou L, Zhang S, Ren Q, Cai X, Luo Y, Liu W, Zhu Y, Zhou X, Li Y, Ji L
Front Endocrinol (Lausanne) 2022;13:953631. Epub 2022 Oct 12 doi: 10.3389/fendo.2022.953631. PMID: 36313763Free PMC Article
The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients.
Yang M, Xu L, Xu C, Cui Y, Jiang S, Dong J, Liao L
Front Endocrinol (Lausanne) 2021;12:728043. Epub 2021 Nov 25 doi: 10.3389/fendo.2021.728043. PMID: 34899594Free PMC Article
Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome.
Chae HW, Na JH, Kim HS, Lee YM
Eur J Endocrinol 2020 Nov;183(5):505-512. doi: 10.1530/EJE-20-0189. PMID: 33107434
Not quite type 1 or type 2, what now? Review of monogenic, mitochondrial, and syndromic diabetes.
Yeung RO, Hannah-Shmouni F, Niederhoffer K, Walker MA
Rev Endocr Metab Disord 2018 Mar;19(1):35-52. doi: 10.1007/s11154-018-9446-3. PMID: 29777474
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A
Pediatr Diabetes 2015 Feb;16(1):1-9. Epub 2014 Oct 20 doi: 10.1111/pedi.12223. PMID: 25330715

Diagnosis

Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision.
Gruber N, Pinhas-Hamiel O
Curr Diab Rep 2022 Sep;22(9):423-432. Epub 2022 Jul 5 doi: 10.1007/s11892-022-01483-y. PMID: 35789979
The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients.
Yang M, Xu L, Xu C, Cui Y, Jiang S, Dong J, Liao L
Front Endocrinol (Lausanne) 2021;12:728043. Epub 2021 Nov 25 doi: 10.3389/fendo.2021.728043. PMID: 34899594Free PMC Article
Overview of Atypical Diabetes.
Tamaroff J, Kilberg M, Pinney SE, McCormack S
Endocrinol Metab Clin North Am 2020 Dec;49(4):695-723. Epub 2020 Oct 14 doi: 10.1016/j.ecl.2020.07.004. PMID: 33153675Free PMC Article
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A
Pediatr Diabetes 2015 Feb;16(1):1-9. Epub 2014 Oct 20 doi: 10.1111/pedi.12223. PMID: 25330715
Mitochondrial diabetes mellitus.
Maassen JA, Janssen GM, Lemkes HH
J Endocrinol Invest 2002 May;25(5):477-84. doi: 10.1007/BF03344042. PMID: 12035948

Therapy

The Role of Lactate Exercise Test and Fasting Plasma C-Peptide Levels in the Diagnosis of Mitochondrial Diabetes: Analysis of Clinical Characteristics of 12 Patients With Mitochondrial Diabetes in a Single Center With Long-Term Follow-Up.
Zhao Y, Zhang Y, Qi M, Ping F, Zhang H, Xu L, Li W, Li Y
Front Endocrinol (Lausanne) 2022;13:835570. Epub 2022 Feb 21 doi: 10.3389/fendo.2022.835570. PMID: 35265041Free PMC Article
Neurological manifestations in m.3243A>G-related disease triggered by metformin.
Tong HF, Lee HH, Tong TT, Lam SF, Sheng B, Chan KW, Li JK, Tam HV, Ching CK
J Diabetes Complications 2022 Mar;36(3):108111. Epub 2021 Dec 27 doi: 10.1016/j.jdiacomp.2021.108111. PMID: 35123869
Management of mitochondrial diabetes in the era of novel therapies.
Yeung RO, Al Jundi M, Gubbi S, Bompu ME, Sirrs S, Tarnopolsky M, Hannah-Shmouni F
J Diabetes Complications 2021 Jan;35(1):107584. Epub 2020 Apr 13 doi: 10.1016/j.jdiacomp.2020.107584. PMID: 32331977Free PMC Article
Treating young adults with type 2 diabetes or monogenic diabetes.
Owen KR
Best Pract Res Clin Endocrinol Metab 2016 Jun;30(3):455-67. Epub 2016 May 27 doi: 10.1016/j.beem.2016.05.002. PMID: 27432078
Mitochondrial diabetes, diabetes and the thiamine-responsive megaloblastic anaemia syndrome and MODY-2. Diseases with common pathophysiology?
Maassen JA
Panminerva Med 2002 Dec;44(4):295-300. PMID: 12434122

Prognosis

Monogenic diabetes mellitus due to defects in insulin secretion.
Henzen C
Swiss Med Wkly 2012;142:w13690. Epub 2012 Oct 4 doi: 10.4414/smw.2012.13690. PMID: 23037711
Role of molecular genetics in transforming diagnosis of diabetes mellitus.
Molven A, Njølstad PR
Expert Rev Mol Diagn 2011 Apr;11(3):313-20. doi: 10.1586/erm.10.123. PMID: 21463240
Problems in differential diagnosis of diabetes types.
Małecki M, Skupień J
Pol Arch Med Wewn 2008 Jul-Aug;118(7-8):435-40. PMID: 18714740
Monogenic diabetes: implications for therapy of rare types of disease.
Malecki MT, Mlynarski W
Diabetes Obes Metab 2008 Aug;10(8):607-16. Epub 2007 May 6 doi: 10.1111/j.1463-1326.2007.00736.x. PMID: 17488343
Mitochondrial diabetes: molecular mechanisms and clinical presentation.
Maassen JA, 'T Hart LM, Van Essen E, Heine RJ, Nijpels G, Jahangir Tafrechi RS, Raap AK, Janssen GM, Lemkes HH
Diabetes 2004 Feb;53 Suppl 1:S103-9. doi: 10.2337/diabetes.53.2007.s103. PMID: 14749274

Clinical prediction guides

Diabetes ketoacidosis and Recurrent Childhood Stroke-like Episodes.
Liu RC, Sheu JN, Liu CS, Tsai JD
Acta Neurol Taiwan 2024 Mar 30;33(1):41-42. PMID: 37853548
Monogenic diabetes: implications for therapy of rare types of disease.
Malecki MT, Mlynarski W
Diabetes Obes Metab 2008 Aug;10(8):607-16. Epub 2007 May 6 doi: 10.1111/j.1463-1326.2007.00736.x. PMID: 17488343
Mitochondrial diabetes: molecular mechanisms and clinical presentation.
Maassen JA, 'T Hart LM, Van Essen E, Heine RJ, Nijpels G, Jahangir Tafrechi RS, Raap AK, Janssen GM, Lemkes HH
Diabetes 2004 Feb;53 Suppl 1:S103-9. doi: 10.2337/diabetes.53.2007.s103. PMID: 14749274
Clinical aspects of mitochondrial diabetes.
Vialettes B, Paquis-Flucklinger V, Bendahan D
Diabetes Metab 1997 Mar;23 Suppl 2:52-6. PMID: 9105784
Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit.
Gerbitz KD, Gempel K, Brdiczka D
Diabetes 1996 Feb;45(2):113-26. doi: 10.2337/diab.45.2.113. PMID: 8549853

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...