Glycogen storage disease type VI

Glycogen storage disease type VI

Glycogen storage disease type VI
Classification and external resources
10 9 OMIM DiseasesDB eMedicine MeSH GeneReviews
  • Template:NCBIBook2

Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system.[1]

It is also known as "Hers' disease", after Henri G. Hers, who characterized it in 1959.[2][3]

The scope of GSD VI now also includes glycogen storage disease type VIII,[1] IX[1] (caused by phosphorylase b kinase deficiency) and X[1] (deficiency of protein kinase A). These were previously considered to be distinct GSD types.[4]

The incidence of GSD VI is approximately 1 case per 65,000–85,000 births,[1] representing approximately 30% all cases of glycogen storage disease.[1] Approximately 75% of these GSD VI cases result from the X-linked recessive forms of phosphorylase kinase deficiency.[1] All other forms are autosomal recessive.[1]

Presentation

Patients generally have a benign course, and typically present with hepatomegaly[5] and growth retardation early in childhood. Mild hypoglycemia, hyperlipidemia, and hyperketosis may occur. Lactic acid and uric acid levels may be normal. However, lactic acidosis may occur during fasting. [6]

See also

References

External links

  • GeneReview/NIH/UW entry on Glycogen Storage Disease Type VI