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Type 1 glycogenosis

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Definition

noun

A metabolic disorder that is caused by a deficiency of glucose-6-phosphatase resulting in the extra glycogen storage in cell, especially in liver and kidney


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 1 glycogenosis. This disease is characterized by a deficiency of glucose-6-phosphatase. This enzyme catalyzes the hydrolysis of glucose-6-phosphate thereby producing a phosphate group and free glucose. Thus, without enough glucose-6-phosphatase, one of the outcomes is the inability of the liver to produce free glucose both from glycogen and gluconeogenesis. The common symptoms include hepatomegaly, hypoglycemia, hyperuricemia, lactic acidosis, and gout.

Type 1 glycogenosis is inherited in an autosomal recessive pattern. There are three subtypes of this condition: type 1a, type 1b, and type 1c. The type 1a is associated with mutations of G6PC gene (coding for for glucose-6-phosphatase). Type 1b is caused by mutations of the gene SLC37A4 (coding for G6P transporter). Type 1c results from mutations of the gene SLC37A4 or SLC17A3.



Synonym(s):

  • von Gierke's disease
  • glycogen storage disease type I (GSD I)
  • glucose-6-phosphatase hepatorenal glycogenosis

See also: