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Type 6 glycogenosis

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Definition

noun

A metabolic disorder that is caused by a deficiency of liver glycogen phosphorylase (or other components of the associated phosphorylase cascade system) resulting in the extra glycogen storage in liver cells


Supplement

Glycogenosis refers to a group of metabolic disorders due to the improper metabolism of glycogen. It involves certain enzymes that have become defective or deficient and therefore affected glycogen metabolism. The outcome is the excessive deposition of glycogen in cells. There are different types of glycogenosis and one of them is type 6 glycogenosis. Type 6 glycogenosis is a type of glycogenosis caused by a deficiency of liver glycogen phosphorylase or other components of the associated phosphorylase cascade system (e.g. adenyl cyclase, phosphorylase b kinase, and cAMP-dependent protein kinase). The enzyme liver glycogen phosphorylase is partially responsible for the breakdown of glycogen in the liver. Without an adequate level of this enzyme, there is a buildup of glycogen in the liver and therefore disrupts the normal function of the cells. This also implies the inability of the body to derive energy from glycogen as it demands. As a result, the condition may lead to lactic acidosis. Other common symptoms include hypoglycemia, hepatomegaly, and hyperlipidemia. The condition is commonly associated with a mutation in the PYGL gene. Type 6 glycogenosis is inherited in an autosomal recessive pattern.


Synonym(s):

  • Hers disease
  • hepatophosphorylase deficiency glycogenosis
  • glycogen storage disease type VI (GSD VI)

See also: