glycogen storage disease/vermoeidheid

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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

Evaluation of Frailty and Functional Capacity in End-Stage Liver Disease

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The decrease in functional capacity is a finding that affects quality of life in chronic liver diseases. In a study, 6 Minute Walk Test was associated with mortality in patients with cirrhosis and survival was lower in patients walking less than 250 meters. Malnutrition is a common complication of

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

Triheptanoin in Mc Ardle

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This project will investigate the treatment potential of the drug Triheptanoin in patients with the inborn defect in glycogen metabolism, McArdle Disease. There is currently no treatment available for this group of patients. The condition leads to intolerance to physical exercise with a risk of

GDF-15 as a Biomarker for Mitochondrial Disease

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BACKGROUND Energy insufficiency: Mitochondrial and metabolic myopathies are inherited diseases compromising cellular energy metabolism, which especially affects skeletal muscle because of its high energy needs. Chemical energy is stored in the body as adenosine triphosphate (ATP), which is derived

Sodium Valproate for GSDV

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McArdle disease (Glycogen storage disease type V, GSDV) is an inherited metabolic disorder of skeletal muscle. Affected patients are unable to perform strenuous exercise due to a congenital absence of the enzyme muscle glycogen phosphorylase, essential for glycogen metabolism. This enzyme deficiency

The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)

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BACKGROUND This project will investigate the treatment potential of the drug Triheptanoin in patients with the inborn defect in glycogen metabolism, McArdle Disease. There is currently no treatment available for this group of patients. The condition leads to intolerance to physical exercise with a

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