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Glycogen storage disease

Glycogen storage disease is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. more...

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Glycogenosis type IV
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There are nine diseases that are commonly considered to be glycogen storage diseases:

  • GSD type I: glucose-6-phosphatase deficiency, von Gierke's disease
  • GSD type II: acid maltase deficiency, Pompe's disease
  • GSD type III: glycogen debrancher deficiency, Cori's disease or Forbe's disease
  • GSD type IV: glycogen branching enzyme deficiency, Andersen disease
  • GSD type V: muscle glycogen phosphorylase deficiency, McArdle disease
  • GSD type VI: liver phosphorylase deficiency, Hers's disease
  • GSD type VII: muscle phosphofructokinase deficiency, Tarui's disease
  • GSD type IX: phosphorylase kinase deficiency
  • GSD type XI: glucose transporter deficiency, Fanconi-Bickel disease
  • GSD type 0: glycogen synthase deficiency

Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs because it is another defect of glycogen storage and can cause similar problems.

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Liver-directed strategies and immunologic consequences of recombinant AAV-mediated cross-correction of glycogen storage disease type II : (Dissertation) $55.00 Gale Encyclopedia of Medicine : Glycogen storage diseases $5.99
The variability of Pompe's disease: A clinical, biochemical and genetic study of glycogen storage disease type 2, or acid maltase deficiency Glycogenosis type 1 (lack of glucose-6-phosphatase in four siblings, (Acta paediatrica. Supplementum)
Glycogen storage disease in Sweden, (Acta paediatrica Scandinavica. Supplementum)

Glycogen storage diseases
Glycogen serves as the primary fuel reserve for the body's energy needs. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regu
Type IV glycogen storage disease
Images in Pathology A 10-month-old male infant presented with massive hepatomegaly. There was no history of jaundice, fever, weight loss, blood in stool, ...
Cirrhosis
Cirrhosis is a chronic, degenerative disease in which normal liver cells are damaged and are then replaced by scar tissue.
Fanconi's syndrome
Fanconi's syndrome is a set of kidney malfunctions brought about by a variety of seemingly unrelated disorders. Kidney malfunction leads to excessive urine ...
Pathologic quiz case: A man with exertion-induced cramps and myoglobinuria-pathologic diagnosis: McArdle disease (glycogenosis Type V or myophosphorylase
A 51-year-old man had a long-standing history of recurrent exertion-induced cramps and myoglobinuria. While growing up, he had never been able to participate ...
Historical perspective: Fat replacement of the glycogen in the liver as a cause of death ...
FAT REPLACEMENT OF THE GLYCOGEN IN THE LIVER AS A CAUSE OF DEATH* During efforts to produce a cirrhosis of the liver in animals with alcohol, as well ...
Lactic acid test
Lactic acid is a weak acid produced by cells during chemical processes in the body that do not require oxygen (anaerobic metabolism). Anaerobic metabolism ...
Muscle spasms and cramps
Muscle spasms and cramps are spontaneous, often painful muscle contractions.

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