title: The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
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.
authors.affiliation: Neurogenetics Clinic, Neurology and Clinical Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
authors.forename: Amel
authors.initials: A
authors.lastname: Karaa
authors.forename: Amy
authors.initials: A
authors.lastname: Goldstein
mesh_terms: D056915:DNA Copy Number Variations; D004272:DNA, Mitochondrial / Q000235:genetics; D003919:Diabetes Insipidus / Q000150:complications / Q000235:genetics; D003920:Diabetes Mellitus / Q000145:classification / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics / Q000628:therapy*; D003937:Diagnosis, Differential; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications / Q000235:genetics; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000150:complications / Q000235:genetics; D012356:RNA, Transfer, Leu / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu
keywords: Kearns Sayre syndrome; MELAS; diabetes; mitochondria; mtDNA