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glycogen storage disease/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
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
Glycogen Storage Disease Breath Test Study
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Purpose: Glycogen storage disease type I (GSD I), also known as Von Gierke disease is caused by deficiency of glucose-6-phosphatase (G6Pase) enzyme affecting 1:100,000 births worldwide. Therefore, deficiency of this enzyme results in accumulation of glycogen in liver and inadequate production of
Acute Nutritional Ketosis in GSD IIIa
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Glycogen Storage Disease type IIIa (GSD IIIa) is an inborn error of carbohydrate metabolism caused by impaired glycogen debranching enzyme (GDE) activity. The ageing GSD IIIa cohort shows that muscle involvement -despite dietary management- is a common disabling phenotype in adulthood. Currently, no
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
Low Carbohydrate Diet: The Effects on Non Alcoholic Fatty Liver Disease in Obese Teens With Metabolic Syndrome
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Specific Aims and Hypothesis:
The Primary aim is:
To compare the impact of dietary weight loss via carbohydrate-restriction and calorie-restriction on hepatic TG content quantified by H-MRS in obese children with biopsy-proven NAFLD and Met-S.
Our Secondary aims are:
To compare BMI z-score, ALT
The Effect of a Carbohydrate Drink on Cognitive Function and Exercise Performance
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Overnight Feeding Study in Glycogen Storage Disease Type 1
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