Glycogen storage disease type VI

Glycogen storage disease type VI
Glycogen storage disease type VI
	Glycogen
Specialty	Endocrinology

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] 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 protein kinase A).

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.

Signs/symptoms

Patients generally have a benign course, and typically present with hepatomegaly 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.^[3]

Diagnosis

Treatment

References

^ ^a ^b ^c ^d ^e Glycogen-Storage Disease Type VI at eMedicine
^ Hers HG (1959). "[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses.]". Rev Int Hepatol (in French). 9 (1): 35–55. PMID 13646331.
^ http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi

External links

[Ierardi-Curto-1] Glycogen-Storage Disease Type VI at eMedicine

[pmid13646331-2] Hers HG (1959). "[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses.]". Rev Int Hepatol (in French). 9 (1): 35–55. PMID 13646331.

[3] ttp://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi

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Classification	D ICD-10: E74.0 ICD-9-CM: 271.0 OMIM: 232700 MeSH: D006013 DiseasesDB: 5311
External resources	eMedicine: med/912 ped/2564 GeneReviews: Glycogen Storage Disease Type VI