The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes

Pediatr Diabetes. 2015 Feb;16(1):1-9. doi: 10.1111/pedi.12223. Epub 2014 Oct 20.

Abstract

Primary mitochondrial diseases refer to a group of heterogeneous and complex genetic disorders affecting 1:5000 people. The true prevalence is anticipated to be even higher because of the complexity of achieving a diagnosis in many patients who present with multisystemic complaints ranging from infancy to adulthood. Diabetes is a prominent feature of several of these disorders which might be overlooked by the endocrinologist. We here review mitochondrial disorders and describe the phenotypic and pathogenetic differences between mitochondrial diabetes mellitus (mDM) and other more common forms of diabetes mellitus.

Keywords: Kearns Sayre syndrome; MELAS; diabetes; mitochondria; mtDNA.

Publication types

  • Review

MeSH terms

  • DNA Copy Number Variations
  • DNA, Mitochondrial / genetics
  • Diabetes Insipidus / complications
  • Diabetes Insipidus / genetics
  • Diabetes Mellitus / classification
  • Diabetes Mellitus / diagnosis*
  • Diabetes Mellitus / etiology*
  • Diabetes Mellitus / genetics
  • Diabetes Mellitus / therapy*
  • Diagnosis, Differential
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Kearns-Sayre Syndrome / complications
  • Kearns-Sayre Syndrome / genetics
  • Mitochondrial Diseases / complications*
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / therapy*
  • Mutation
  • Optic Atrophies, Hereditary / complications
  • Optic Atrophies, Hereditary / genetics
  • RNA, Transfer, Leu / genetics

Substances

  • DNA, Mitochondrial
  • RNA, Transfer, Leu

Supplementary concepts

  • Wolfram Syndrome, Mitochondrial Form