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mtDNA Disease in the Primary Care Setting
Brad Spellberg, MD;
R. Matt Carroll, MD;
Edmondo Robinson, BA;
Eric Brass, MD, PhD
Arch Intern Med. 2001;161:2497-2500.
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.
From the Department of Medicine, Harbor-UCLA Medical Center (Drs Spellberg,
Carroll, and Brass), and UCLA School of Medicine (Mr Robinson and Dr Brass),
Torrance, Calif. Dr Brass is a consultant to Sigma Tau Pharmaceuticals, Gaithersburg,
Md, the manufacturer of L-carnitine.
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