Treatment of Kearns‐Sayre syndrome with coenzyme Q
            <sub>10</sub>

Ogasahara, Saburo; Nishikawa, Yoshiro; Yorifuji, Shiro; Soga, Fumihisa; Nakamura, Yusaku; Takahashi, Mitsuo; Hashimoto, Shigeo; Kôno, Norio; Tarui, Seiichiro

doi:10.1212/wnl.36.1.45

Cited by 154 publications

(56 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In several other studies subjects were stressed according to a protocol different from the one applied in the present investigation. 6,10,12,13,[16][17][18][19][20] Generally, a disadvantage of protocols which require an absolute workload is that differences in muscle mass and physical conditioning are not considered, although it is well-known that the lactate increase under a fixed workload may be due to deconditioning and reduced body mass. 17,21 Although a workload relative to the maximal is assumed to give a higher sensitivity and specificity, particularly if the maximal workload is reached stepwise, results of a recent investigation show that cycling with 30% of the maximal workload does not increase the diagnostic yield of the LST.…”

Section: Discussionmentioning

confidence: 99%

Lactate Stress Testing in 155 Patients with Mitochondriopathy

Finsterer

Milvay

2002

Can. j. neurol. sci.

View full text Add to dashboard Cite

Serum lactate is frequently elevated at rest or during slight exercise in patients with mitochondriopathy (MCP). [1][2][3][4] The increase of serum lactate mainly results from defective respiratory chain enzymes in the skeletal muscles, leading to a reactive change from aerobic to anaerobic phosphorylation of adenosine diphosphate and an equilibrium shift of the pyruvate/lactate reaction towards lactate. [5][6][7][8] The increase of serum lactate during slight exercise is used for diagnostic purposes by means of the lactate stress test (LST). 3,[8][9][10][11][12][13][14] Despite increasing interest in this diagnostic tool and widespread application, little is known about the diagnostic yield of the LST in a large group of patients with MCP. This study was thus conducted, to assess the diagnostic yield of the LST in a large number of patients with MCP, diagnosed during five years. PATIENTS AND METHODSIncluded were all patients of the Neurological Hospital Rosenhügel, Vienna, in whom MCP was diagnosed between July ABSTRACT: Objective: Few data are available about the diagnostic yield of the lactate stress test (LST) in a large group of patients with mitochondriopathy (MCP). Methods: Serum lactate was determined once before, three times during, and once after a 15-minute, constant 30W workload on a bicycle in 62 controls, aged 17 to 84 years, 155 patients with MCP, aged 17 to 87 years, and 31 patients with neurological disorders other than MCP. Results: Lactate's upper reference limits at rest, 5, 10, 15 minutes after starting, and 15 minutes after finishing the exercise were 2.0, 2.1, 2.1, 2.1 and 1.8 mmol/l respectively. The test was regarded abnormal if more than two of the five lactate values exceeded the cut-off levels. Among the 103 patients with abnormal LST, 64 (62 %) had normal resting lactate. The sensitivity of the test was 67% and the specificity 94%. Conclusion: The LST proved to have a high sensitivity and specificity in the detection of patients with MCP, being thus a simple but powerful tool to assess the impaired oxidative metabolism in MCP patients.RÉSUMÉ: Test du lactate à l'effort chez 155 patients atteints de mitochondriopathie. Objectif: Il y a peu de données disponibles sur la valeur diagnostique du test du lactate à l'effort (TLE) chez un groupe important de patients atteints de mitochondriopathie (MCP). Méthodes: Le taux de lactate sérique a été déterminé avant, à trois reprises pendant et après un e activité physique de 15 minutes, d'intensité constante à 30W sur une bicyclette, chez 62 contrôles âgés de 17 à 84 ans, 155 patients atteints de MCP, âgés de 17 à 87 ans et 31 patients présentant d'autres pathologies neurologiques. Résultats: Le point de coupe supérieur des valeurs de référence au repos, 5, 10, 15 minutes après le début de l'exercice et 15 minutes après la fin de l'exercice étaient de 2,0, 2,1, 2,1, 2,1 et 1,8 mmol/L respectivement. Le test était considéré comme normal si plus de deux des cinq valeurs de lactate étaient supérieures au point de coupe. Parmi les 103 patients dont...

show abstract

Section: Discussionmentioning

confidence: 99%

Lactate Stress Testing in 155 Patients with Mitochondriopathy

Finsterer

Milvay

2002

Can. j. neurol. sci.

View full text Add to dashboard Cite

show abstract

“…Plasma levels of coenzyme Q 10 are usually normal in primary muscle coenzyme Q 10 deficiency. Secondary coenzyme Q 10 deficiency in muscle was first reported along with a treatment response in 1986 in Kearns-Sayre syndrome [91]. Since then evidence has accumulated in several studies that a subset of mitochondrial disease patients have muscle coenzyme Q 10 deficiency [92].…”

Section: Skeletal Muscle Analysismentioning

confidence: 99%

The in-depth evaluation of suspected mitochondrial disease

Haas

Parikh

Falk

et al. 2008

Molecular Genetics and Metabolism

318

300

View full text Add to dashboard Cite

Mitochondrial disease confirmation and establishment of a specific molecular diagnosis requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial disease, multiorgan system manifestations, and an ever increasing spectrum of recognized phenotypes represent the main diagnostic challenges. To overcome these obstacles, compiling information from a variety of diagnostic laboratory modalities can often provide sufficient evidence to establish an etiology. These include blood and tissue histochemical and analyte measurements, neuroimaging, provocative testing, enzymatic assays of tissue samples and cultured cells, as well as DNA analysis. As interpretation of results from these multifaceted investigations can become quite complex, the Diagnostic Committee of the Mitochondrial Medicine Society developed this review to provide an overview of currently available and emerging methodologies for the diagnosis of primary mitochondrial disease, primarily focusing on disorders characterized by impairment of oxidative phosphorylation. The aim of this work is to facilitate the diagnosis of mitochondrial disease by geneticists, neurologists, and other metabolic specialists who face the challenge of evaluating patients of all ages with suspected mitochondrial disease.

show abstract

“…51 Coenzyme Q 10 therapy was also reported to correct pancreatic b-cell dysfunction in patients with mitochondrial encephalomyopathy and lactic acidosis and diabetes mellitus. 52 However, the most consistent finding appears to be at the biochemical level with a decrease in plasma/serum lactate and pyruvate levels being widely reported following exercise 48,51,53,54,55,56,57,58 . In contrast, some studies have shown no evidence of clinical or biochemical improvement in patients following CoQ 10 supplementation 59,60 .…”

Section: Treatment Of Mrc Disordersmentioning

confidence: 94%

Coenzyme Q₁₀ in the Treatment of Mitochondrial Disease

Neergheen

Chalasani

Wainwright

et al. 2017

Journal of Inborn Errors of Metabolism and Screening

View full text Add to dashboard Cite

Currently, there is a paucity of available treatment strategies for oxidative phosphorylation disorders. Coenzyme Q 10 (CoQ 10 ) and related synthetic quinones are the only agents to date that have proven to be beneficial in the treatment of these heterogeneous disorders. The therapeutic efficacy of CoQ 10 is not restricted to patients with an underlying CoQ 10 deficiency and is thought to result from its ability to restore electron flow in the mitochondrial respiratory chain (MRC) as well as to increase the cellular antioxidant capacity. At present, however, there is no consensus on the appropriate dosage or therapeutic plasma level of CoQ 10 , and this information will be required before CoQ 10 can be utilized effectively in the treatment of mitochondrial disease. The following review will outline our current knowledge on the use of CoQ 10 in the treatment of MRC disorders and primary CoQ 10 deficiencies.

show abstract

Treatment of Kearns‐Sayre syndrome with coenzyme Q ₁₀

Cited by 154 publications

References 0 publications

Lactate Stress Testing in 155 Patients with Mitochondriopathy

Lactate Stress Testing in 155 Patients with Mitochondriopathy

The in-depth evaluation of suspected mitochondrial disease

Coenzyme Q₁₀ in the Treatment of Mitochondrial Disease

Contact Info

Product

Resources

About

Treatment of Kearns‐Sayre syndrome with coenzyme Q 10

Cited by 154 publications

References 0 publications

Lactate Stress Testing in 155 Patients with Mitochondriopathy

Lactate Stress Testing in 155 Patients with Mitochondriopathy

The in-depth evaluation of suspected mitochondrial disease

Coenzyme Q10 in the Treatment of Mitochondrial Disease

Contact Info

Product

Resources

About

Treatment of Kearns‐Sayre syndrome with coenzyme Q ₁₀

Coenzyme Q₁₀ in the Treatment of Mitochondrial Disease