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|Glycogen storage disease|
|Classification and external resources|
GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine.
There are eleven (11) distinct diseases that are commonly considered to be glycogen storage diseases (some previously thought to be distinct have been reclassified). (Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.)..
Overall, according to a study in British Columbia, approximately 2.3 children per 100 000 births (1 in 43,000) have some form of glycogen storage disease. In the United States, they are estimated to occur in 1 per 20,000-25,000 births. A Dutch study estimated it to be 1 in 40,000.
|Muscle symptoms||Development/ prognosis||Other symptoms|
|GSD type 0||glycogen synthase||-||Yes||No||No||Occasional muscle cramping||Growth failure in some cases|
|GSD type I||glucose-6-phosphatase||von Gierke's disease||1 in 50,000- 100,000 births||Yes||Yes||Yes||None||Growth failure||Lactic acidosis, hyperuricemia|
|GSD type II||acid alpha-glucosidase||Pompe's disease||1 in 40,000 births-50,000||No||Yes||No||Muscle weakness||*Death by age ~2 years (infantile variant)||heart failure|
|GSD type III||glycogen debranching enzyme||Cori's disease or Forbes' disease||1 in 100,000 births||Yes||Yes||Yes||Myopathy|
|GSD type IV||glycogen branching enzyme||Andersen disease||1 to 500,000||No||Yes,
|No||None||Failure to thrive, death at age ~5 years|
|GSD type V||muscle glycogen phosphorylase||McArdle disease||1 in 100,000-500,000||No||No||No||Exercise-induced cramps, Rhabdomyolysis||Renal failure by myoglobinuria, second wind phenomenon|
|GSD type VI||liver glycogen phosphorylase||Hers' disease||1 in 65,000- 85,000 births||Yes||Yes||Yes||None||initially benign, growth retardation follows.|
|GSD type VII||muscle phosphofructokinase||Tarui's disease||1 in 1,000,000||No||No||No||Exercise-induced muscle cramps and weakness||growth retardation||Haemolytic anaemia|
|GSD type IX||Phosphorylase kinase||Yes||Yes||Yes||None||Delayed motor development, Growth retardation|
|GSD type XI||glucose transporter, GLUT2||Fanconi-Bickel syndrome||Yes||Yes||No||None|
|GSD type XII||Aldolase A||Red cell aldolase deficiency||?||?||?||Exercise intolerance, cramps|
|GSD type XIII||β-enolase||-||?||?||?||Exercise intolerance, cramps||Increasing intensity of myalgias over decades||Serum CK: Episodic elevations; Reduced with rest|
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