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The glycogen storage diseases (GSDs), are a group of autosomal recessive disorders of glycogen synthesis and degradation that result in disturbed glucose homeostasis and glycogen accumulation in various tissues.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

The glycogen storage diseases (GSDs), are a group of autosomal recessive disorders of glycogen synthesis and degradation that result in disturbed glucose homeostasis and glycogen accumulation in various tissues. Deficiency of glycogen branching enzyme (GBE) activity causes glycogen storage disease type IV (GSD IV), an autosomal recessive error of metabolism.

Clinical features

Abnormal glycogen accumulates in myocytes, hepatocytes, and neurons, causing variably progressive, benign to lethal organ dysfunctions.

Additional information

Phenotypic variations have been observed and may be due to metabolic adaptations leading to the relative dependence of individuals on dietary carbohydrate for glucose homeostasis.

References

Pubmed ID: 17257876

Omia ID: 420

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