title: mtDNA disease in the primary care setting.
abstract: Disorders of mitochondrial DNA (mtDNA) may commonly present to primary care physicians but go undiagnosed. A 36-year-old man with a 15-year history of psychosis, seizures, and sensorineural hearing loss and a family history of diabetes mellitus and heart disease presented to our hospital without a unifying diagnosis. Physiologic, biochemical, and genetic testing revealed deficient aerobic metabolism, a defect in mitochondrial electron transport, and the presence of an A-to-G point mutation at position 3243 of the mitochondrial leucine-transfer RNA gene, establishing the diagnosis of mitochondrial encephalopathy, lactic acidosis, and strokelike syndrome (MELAS). Diagnosing mtDNA disorders requires a careful integration of clinical signs and symptoms with pedigree analysis and multidisciplinary testing. Diagnosis is important to provide genetic counseling, avoid unnecessary evaluation, and facilitate therapy for symptomatic relief.
authors.affiliation: Department of Medicine, Harbor-UCLA Medical Center, 1000 W Carson St, Torrance, CA 90509, USA. bjs@humc.edu
authors.forename: B
authors.initials: B
authors.lastname: Spellberg
authors.forename: R M
authors.initials: RM
authors.lastname: Carroll
authors.forename: E
authors.initials: E
authors.lastname: Robinson
authors.forename: E
authors.initials: E
authors.lastname: Brass
mesh_terms: D000328:Adult; D001706:Biopsy; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D003937:Diagnosis, Differential; D005080:Exercise Test; D005194:Family Practice / Q000379:methods*; D005817:Genetic Counseling; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D011320:Primary Health Care / Q000379:methods*; D011618:Psychotic Disorders / Q000235:genetics; D012346:RNA, Transfer, Amino Acyl / Q000235:genetics; D012640:Seizures / Q000235:genetics
chemical_list: D012346:RNA, Transfer, Amino Acyl