mitochondrial myopathies/carbohydrate

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Triacylglycerol infusion improves exercise endurance in patients with mitochondrial myopathy due to complex I deficiency.

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Ielogoties Reģistrēties

BACKGROUND A high-fat diet has been recommended for the treatment of patients with mitochondrial myopathy due to complex I (NADH dehydrogenase) deficiency (CID). OBJECTIVE This study evaluated the effects of intravenous infusion of isoenergetic amounts of triacylglycerol or glucose on substrate

Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients.

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Mitochondrial myopathy (MM) with progressive external ophthalmoplegia (PEO) is a common manifestation of mitochondrial disease in adulthood, for which there is no curative therapy. In mice with MM, ketogenic diet significantly delayed progression of the disease. We asked in this pilot study what

Gas chromatographic-mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy with de Toni-Fanconi-Debré syndrome.

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Ielogoties Reģistrēties

The metabolic profiles of three patients with fatal infantile mitochondrial myopathy with de Toni-Fanconi-Debré syndrome were studied by simultaneous analysis, after urease treatment of urinary organic acids, carbohydrates, polyols and amino acids using gas chromatography/mass spectrometry (GC/MS).

Triacylglycerol infusion does not improve hyperlactemia in resting patients with mitochondrial myopathy due to complex I deficiency.

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Ielogoties Reģistrēties

BACKGROUND A high-fat diet has been recommended for correction of biochemical abnormalities and muscle energy state in patients with complex I (NADH dehydrogenase) deficiency (CID). OBJECTIVE This study evaluated the effects of intravenous infusion of isoenergetic amounts of triacylglycerol or

Cardiopulmonary Exercise Testing and Metabolic Myopathies.

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Ielogoties Reģistrēties

Skeletal muscle requires a large increase in its ATP production to meet the energy needs of exercise. Normally, most of this increase in ATP is supplied by the aerobic process of oxidative phosphorylation. The main defects in muscle metabolism that interfere with production of ATP are (1) disorders

Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

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Ielogoties Reģistrēties

OBJECTIVE To elucidate the molecular basis of a mitochondrial myopathy associated with recurrent myoglobinuria and cytochrome c oxidase (COX) deficiency in muscle. BACKGROUND Recurrent myoglobinuria is typically seen in patients with inborn errors of carbohydrate or lipid metabolism, the main

An abnormal exercise test response revealing a respiratory chain complex III deficiency.

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Ielogoties Reģistrēties

A 29-year-old man with a progressive exertional muscle intolerance since childhood was referred for incremental exercise test on a bicycle ergometer. The response pattern suggested a mitochondrial myopathy: that is, a greatly reduced maximum oxygen consumption with appropriate heart rate increase

Equine metabolic myopathies with emphasis on the diagnostic approach. Comparison with human myopathies. A review.

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Ielogoties Reģistrēties

This review gives an overview of the presently known human and equine metabolic myopathies with emphasis on the diagnostic approach. Metabolic myopathies are muscle disorders caused by a biochemical defect of the skeletal muscle energy system, which results in inefficient muscle performance.

Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation.

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Ielogoties Reģistrēties

Mitochondrial disorders are among the most prevalent inborn errors of metabolism but largely lack treatments and have poor outcomes. High-fat, low-carbohydrate ketogenic diets (KDs) have shown beneficial effects in mouse models of mitochondrial myopathies, with induction of mitochondrial biogenesis

Pathophysiology of exercise performance in muscle disease.

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Ielogoties Reģistrēties

Diseases of skeletal muscles (myopathies) produce two major patterns of exercise intolerance. In muscular dystrophies, there is a progressive loss of muscle fibers which results in increasing muscle weakness and reduced VO2max due to the loss of functional muscle mass. In disorders of muscle energy

What can metabolic myopathies teach us about exercise physiology?

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Ielogoties Reģistrēties

Exercise physiologists are interested in metabolic myopathies because they demonstrate how knocking out a component of a specific biochemical pathway can alter cellular metabolism. McArdle's disease (myophosphorylase deficiency) has often been studied in exercise physiology to demonstrate the

Energy metabolism in disorders of the nervous system.

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Ielogoties Reģistrēties

"Energy metabolism" is deranged in a wide variety of disorders of the nervous system. This term refers rather loosely to the pathways responsible for the utilization of the major substrates of brain. Primary disorders of energy metabolism are those in which the primary insult affects the cellular

Understanding the Physiology of FGF21.

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Ielogoties Reģistrēties

Fibroblast growth factor 21 (FGF21) is a peptide hormone that is synthesized by several organs and regulates energy homeostasis. Excitement surrounding this relatively recently identified hormone is based on the documented metabolic beneficial effects of FGF21, which include weight loss and improved

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