12 results found for "glycogen storage disease"
Fanconi syndrome is also known as Fanconi's syndrome is a disorder where in function of the proximal tubular of the kidney is damaged that results to reduced re-absorption of electrolytes and nutrients back into the bloodstream. Amino acids, glucose, phosphate, uric acid and bicarbonate are the compounds involved. This disorder should not be confused with Fanconi anemia which is another disease. [read more]
Fanconi Syndrome (also called Fanconi's syndrome) is a disorder in which the proximal tubular function of the kidney is impaired, leading to an decreased reabsorption of electrolytes and nutrients back into the bloodstream. Compounds involved include glucose, uric acid, amino acids, phosphate and bicarbonate. [read more]
Glycogen storage disease (GSD) refers to a group of conditions caused by enzyme defects affecting glycogen synthesis and resulting in inborn errors of metabolism. It is also known by the names dextrinosis and glycogenosis. Nine diseases make up the classification of glycogen storage disease. [read more]
Glycogen storage disease type 1B, also known as von Gierke's disease, is the most common form among the glycogen storage diseases. An enzyme glucose-6-phosphate deficiency is the cause of this, affecting the liver's ability in producing free glucose from gluconeogenesis and glycogen. This in turn, may result in hypoglycemia. [read more]
Glycogen storage disease type 7, also called Phosphorofructokinase deficiency or Tarui's disease, is a metabolic disease characterized by a deficiency in the phosphorofructokinase enzyme. This in turn disturbs the function of the cells, including rhabdomyocytes and erythrocytes, to utilize carbohydrates for energy. The disease is autosomal recessive in nature, and may affect mammals apart from humans. [read more]
Glycogen storage disease type II, also known as acid maltase deficiency or Pompe disease, is characterized by an enzyme acid maltase deficiency. The body uses the enzyme acid maltase to metabolize glycogen for energy. Among all the glycogen storage diseases, this is the only one with a lysosomal metabolism deficiency. [read more]
Glycogen storage disease type V is a glycogen storage disease characterized by a myophosphorylase deficiency. It is also known by the names muscle phosphorylase deficiency or McArdle's disease. [read more]
Glycogen storage disease type VI, also known as Hers disease, is a glycogen storage disease (GSD) characterized by a liver glycogen phosphorylase deficiency. It is also one of the less severe forms of all GSDs. [read more]
Glycogen storage disease type VII, also known as Tauri disease, affects only the muscle tissue. This is similar to GSD type V. [read more]
Mac Ardle Disease, otherwise known as Glycogen Storage Disease Type V (GSD-V) is a kind of metabolic disorder due to the glycogen storage. It is the most common of the various type of GSD. (Wolfe, Gil I. et al. ?McArdle's disease presenting with asymmetric, late-onset arm weakness.? Muscle & Nerve, 2000). [read more]
By definition MacArdle's disease is also known as Glycogen storage disease type V and is a kind of metabolic disorder that is characterized by the body's inability to produce enough of the muscle isoform called phosphorylase. Relatively recent, it was first identified in 1951 by the English physician whose name it now bears. [read more]
Glycogen storage disease type I otherwise known as the Von Gierke's disease, is a genetic disease that is said to be a most common glycogen storage disease. It impairs the person's ability of the liver to produce free glucose from glycogen and from gluconeogenesis. [read more]