RT Journal Article
SR Electronic
T1 Mitochondrial encephalomyopathy with coenzyme Q<sub>10</sub> deficiency
JF Neurology
JO Neurology
FD Lippincott Williams &amp; Wilkins
SP 1238
OP 1243
DO 10.1212/WNL.48.5.1238
VO 48
IS 5
A1 Sobreira, C.
A1 Hirano, M.
A1 Shanske, S.
A1 Keller, R. K.
A1 Haller, R. G.
A1 Davidson, E.
A1 Santorelli, F. M.
A1 Miranda, A. F.
A1 Bonilla, E.
A1 Mojon, D. S.
A1 Barreira, A. A.
A1 King, M. P.
A1 DiMauro, S.
YR 1997
UL http://n.neurology.org/content/48/5/1238.abstract
AB Coenzyme Q10 (CoQ10) transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex 111. There is one published report of human CoQ10 deficiency describing two sisters with encephalopathy, proximal weakness, myoglobinuria, and lactic acidosis. We report a patient who had delayed motor milestones, proximal weakness, premature exertional fatigue, and episodes of exercise-induced pigmenturia. She also developed partial-complex seizures. Serum creatine kinase was approximately four times the upper limit of normal and venous lactate was mildly elevated. Skeletal muscle biopsy revealed many ragged-red fibers, cytochrome c oxidase-deficient fibers, and excess lipid. In isolated muscle mitochondria, impaired oxygen consumption was corrected by the addition of decylubiquinone. During standardized exercise, ventilatory and circulatory responses were compatible with a defect of oxidation-phosphorylation, which was confirmed by near-infrared spectroscopy analysis. Biochemical analysis of muscle extracts revealed decreased activities of complexes I+II and I+III, while CoQ10 concentration was less than 25% of normal. With a brief course of CoQ10 (150 mg daily), the patient reported subjective improvement. The triad of CNS involvement, recurrent myoglobinuria, and ragged-red fibers should alert clinicians to the possibility of CoQ., deficiency.