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Genetics Home Reference: your guide to understanding genetic conditions
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Glycogen storage disease type VI

Reviewed September 2010

What is glycogen storage disease type VI?

Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.

The signs and symptoms of GSDVI typically begin in infancy to early childhood. The first sign is usually an enlarged liver (hepatomegaly). Affected individuals may also have low blood sugar (hypoglycemia) or a buildup of lactic acid in the body (lactic acidosis) during prolonged periods without food (fasting).

The signs and symptoms of GSDVI tend to improve with age; most adults with this condition do not have any related health problems.

How common is glycogen storage disease type VI?

The exact prevalence of GSDVI is unknown. At least 11 cases have been reported in the medical literature, although this condition is likely to be underdiagnosed because it can be difficult to detect in children with mild symptoms or adults with no symptoms. GSDVI is more common in the Old Older Mennonite population, with an estimated incidence of 1 in 1,000 individuals.

What genes are related to glycogen storage disease type VI?

Mutations in the PYGL gene cause GSDVI. The PYGL gene provides instructions for making an enzyme called liver glycogen phosphorylase. This enzyme is found only in liver cells, where it breaks down glycogen into a type of sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar that is the main energy source for most cells in the body.

PYGL gene mutations prevent liver glycogen phosphorylase from breaking down glycogen effectively. As a result, liver cells cannot use glycogen for energy. Since glycogen cannot be broken down, it accumulates within liver cells, causing these cells to become enlarged and dysfunctional.

Related Gene(s)

Changes in this gene are associated with glycogen storage disease type VI.

  • PYGL

How do people inherit glycogen storage disease type VI?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of glycogen storage disease type VI?

These resources address the diagnosis or management of glycogen storage disease type VI and may include treatment providers.

  • Gene Review: Glycogen Storage Disease Type VI (http://www.ncbi.nlm.nih.gov/books/NBK5941)
  • Genetic Testing Registry: Glycogen storage disease, type VI (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0017925)

You might also find information on the diagnosis or management of glycogen storage disease type VI in Educational resources (http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about glycogen storage disease type VI?

You may find the following resources about glycogen storage disease type VI helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for glycogen storage disease type VI?

  • GSD6
  • GSD type VI
  • GSD VI
  • hepatic glycogen phosphorylase deficiency
  • Hers disease
  • liver phosphorylase deficiency syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about glycogen storage disease type VI?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding glycogen storage disease type VI?

acidosis ; autosomal ; autosomal recessive ; breakdown ; cell ; deficiency ; enzyme ; fasting ; gene ; glucose ; glycogen ; hepatic ; hypoglycemia ; incidence ; inherited ; lactic acid ; lactic acidosis ; phosphate ; population ; prevalence ; recessive ; sign ; simple sugar ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ. High frequency of missense mutations in glycogen storage disease type VI. J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 Aug 21. (http://www.ncbi.nlm.nih.gov/pubmed/17705025?dopt=Abstract)
  • Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW. Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. Am J Hum Genet. 1998 Apr;62(4):785-91. (http://www.ncbi.nlm.nih.gov/pubmed/9529348?dopt=Abstract)
  • Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. Hum Mol Genet. 1998 May;7(5):865-70. (http://www.ncbi.nlm.nih.gov/pubmed/9536091?dopt=Abstract)
  • Gene Review: Glycogen Storage Disease Type VI (http://www.ncbi.nlm.nih.gov/books/NBK5941)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2010
Published: January 27, 2015