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rhabdomyolysis/carbohydrate
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McArdle Disease Treatment by Ketogenic Diet
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McArdle disease (myophosphorylase deficiency, glycogen storage disease type 5, GSD5, OMIM # 232600) is an inherited metabolic disorder of skeletal muscle. Affected patients suffer from genetically determined lack of the enzyme muscle glycogen phosphorylase, which is essential for glycogen
Sickle Cell Trait and Exercise, Effect of Hot Environment
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Introduction
The sickle cell disease is an inherited disorder characterized by abnormal hemoglobin called hemoglobin S or sickle hemoglobin in red blood cells of subjects. The homozygous form (hemoglobin SS) causes sickle cell anemia and is the most severe kind of sickle cell disease. Hemoglobin SC
Modified Ketogenic Diet in Patients With McArdle Disease Part B
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A blinded randomized, placebo-controlled, cross-over study to investigate the effects of a modified ketogenic diet in patients with McArdle disease.
McArdle disease, glycogen storage disease type V, is a rare metabolic disease caused by mutations in the PYGM gene resulting in absence of the enzyme
Modified Ketogenic Diet in Patients With McArdle Disease Part A
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Open interventional study to investigate 3 different modified ketogenic diet regimes, to find an optimal composition of a modified ketogenic diet for patients with McArdle disease
McArdle disease, glycogen storage disease type V, is a rare metabolic disease caused by mutations in the PYGM gene
The Effect of Triheptanoin on Fatty Acid Oxidation and Exercise Tolerance in Patients With Glycogenoses
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BACKGROUND:
Neuromuscular diseases affect more than 5% of the population in Western countries. Some of the more rare neuromuscular disorders are patients with metabolic myopathies, which are hereditary disorders caused by enzymatic defects of intermediary metabolism. The disorders are generally
Acute Nutritional Ketosis in VLCAD Deficiency
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Exertional rhabdomyolysis is a common symptom in very long-chain acylCoA dehydrogenase deficient (VLCADD) patients. Failing muscle ATP homeostasis, due to impaired fatty acid oxidation, is the most likely cause. Therefore, supplementation with an alternative energy substrate to boost ATP
The Effects of Melatonin on Elevated Liver Enzymes During Statins Treatment
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Introduction Statins are widely used in the treatment and prevention of lipid metabolism disorders. They are generally well tolerated but not devoid of side effects. These include, among others, muscular symptoms, arthritis, headaches, gynecomastia. Myositis and rhabdomyolysis associated with
Maintenance of Muscle Mass in Older People: the Negative Impact of Statin Therapy
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Cardiovascular disease is the leading cause of mortality in elderly people accounting for >208,000 deaths each year, with hyperlipidaemia being the major modifiable risk factor in the elderly. Statins inhibit synthesis of cholesterol, and their therapy has been associated with a 30% reduction in
Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects
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Background and research aim:
Carnitine palmitoyltransferase II (CPTII) and very-long chain acyl-CoA-dehydrogenase (VLCAD) deficiencies are the two most common inherited disorders of mitochondrial fatty acid oxidation (FAO) in adults, both inherited in an autosomal recessive manner. Mitochondrial FAO
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
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A role for mitochondrial fatty acid oxidation in the peripheral signaling cascade of leptin, adiponectin and insulin has recently been proposed from animal studies but has not been investigated in humans. Children with trifunctional protein (TFP, including deficiency of long-chain hydroxyacyl-CoA
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