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[Mitochondrial encephalomyopathy (focal cytochrome c oxidase deficiency) with transient episodes of muscle weakness and elevation of serum creatine kinase activity].
Rinsho Shinkeigaku. 1990 Mar; 30(3):317-9.RS

Abstract

A 17-year-old boy who had mitochondrial encephalomyopathy with focal deficiency of cytochrome c oxidase (CCO) activity is described. He experienced 3 episodes of muscle weakness, fatigability, nausea, vomiting and concomitant increase of serum creatine kinase activity, at the age of 13, 15 and 17 years. During interval there was no muscle weakness and the serum creatine kinase activity was within normal range. Increased levels of lactic acid and pyruvic acid were observed in the blood and cerebrospinal fluid. After an aerobic exercise test, lactic acid and pyruvic acid in the blood increased to an abnormally high level, and the arterial blood became acidic (pH 7.297). On EEG, occasional intermittent irregular theta activities were observed in the anterior region, but there were no abnormalities on CT and MRI in the central nervous system. In the biopsied muscle, ragged-red fibers comprised 20% on modified Gomori-trichrome staining and a number of fibers with no CCO activity were scattered throughout. The CCO activity in the mitochondria isolated from the biopsied muscle was reduced to 49.2 nmol/min/mg protein (normal range 144.7-355.8), while other mitochondrial enzyme activities in the electron transport system were normal. From these data, the patient was considered to have a unique form of mitochondrial encephalomyopathy. By the administration of a large amount of coenzyme Q10, episodes of muscle weakness and nausea, and an increase of lactic acid and pyruvic acid in the blood after aerobic exercise test were no longer observed.

Authors+Show Affiliations

Department of Neurology, Faculty of Medicine, Kyushu University.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

jpn

PubMed ID

2163788

Citation

Ohno, M, et al. "[Mitochondrial Encephalomyopathy (focal Cytochrome C Oxidase Deficiency) With Transient Episodes of Muscle Weakness and Elevation of Serum Creatine Kinase Activity]." Rinsho Shinkeigaku = Clinical Neurology, vol. 30, no. 3, 1990, pp. 317-9.
Ohno M, Kobayashi T, Tanaka K, et al. [Mitochondrial encephalomyopathy (focal cytochrome c oxidase deficiency) with transient episodes of muscle weakness and elevation of serum creatine kinase activity]. Rinsho Shinkeigaku. 1990;30(3):317-9.
Ohno, M., Kobayashi, T., Tanaka, K., Goto, I., & Nonaka, I. (1990). [Mitochondrial encephalomyopathy (focal cytochrome c oxidase deficiency) with transient episodes of muscle weakness and elevation of serum creatine kinase activity]. Rinsho Shinkeigaku = Clinical Neurology, 30(3), 317-9.
Ohno M, et al. [Mitochondrial Encephalomyopathy (focal Cytochrome C Oxidase Deficiency) With Transient Episodes of Muscle Weakness and Elevation of Serum Creatine Kinase Activity]. Rinsho Shinkeigaku. 1990;30(3):317-9. PubMed PMID: 2163788.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Mitochondrial encephalomyopathy (focal cytochrome c oxidase deficiency) with transient episodes of muscle weakness and elevation of serum creatine kinase activity]. AU - Ohno,M, AU - Kobayashi,T, AU - Tanaka,K, AU - Goto,I, AU - Nonaka,I, PY - 1990/3/1/pubmed PY - 1990/3/1/medline PY - 1990/3/1/entrez SP - 317 EP - 9 JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku VL - 30 IS - 3 N2 - A 17-year-old boy who had mitochondrial encephalomyopathy with focal deficiency of cytochrome c oxidase (CCO) activity is described. He experienced 3 episodes of muscle weakness, fatigability, nausea, vomiting and concomitant increase of serum creatine kinase activity, at the age of 13, 15 and 17 years. During interval there was no muscle weakness and the serum creatine kinase activity was within normal range. Increased levels of lactic acid and pyruvic acid were observed in the blood and cerebrospinal fluid. After an aerobic exercise test, lactic acid and pyruvic acid in the blood increased to an abnormally high level, and the arterial blood became acidic (pH 7.297). On EEG, occasional intermittent irregular theta activities were observed in the anterior region, but there were no abnormalities on CT and MRI in the central nervous system. In the biopsied muscle, ragged-red fibers comprised 20% on modified Gomori-trichrome staining and a number of fibers with no CCO activity were scattered throughout. The CCO activity in the mitochondria isolated from the biopsied muscle was reduced to 49.2 nmol/min/mg protein (normal range 144.7-355.8), while other mitochondrial enzyme activities in the electron transport system were normal. From these data, the patient was considered to have a unique form of mitochondrial encephalomyopathy. By the administration of a large amount of coenzyme Q10, episodes of muscle weakness and nausea, and an increase of lactic acid and pyruvic acid in the blood after aerobic exercise test were no longer observed. SN - 0009-918X UR - https://www.unboundmedicine.com/medline/citation/2163788/[Mitochondrial_encephalomyopathy__focal_cytochrome_c_oxidase_deficiency__with_transient_episodes_of_muscle_weakness_and_elevation_of_serum_creatine_kinase_activity]_ DB - PRIME DP - Unbound Medicine ER -