Glycogen storage disease type VI
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It has been suggested that Glycogen storage disease type IX be merged into this article or section. (Discuss) Proposed since November 2009. |
| Glycogen storage disease type VI | |
|---|---|
| Classification and external resources | |
 Glycogen |
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| ICD-10 | E74.0 |
| ICD-9 | 271.0 |
| OMIM | 232700 |
| DiseasesDB | 5311 |
| eMedicine | med/912 ped/2564 |
| MeSH | D006013 |
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,[4] 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.[5]
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]
[edit] Presentation
Patients generally have a benign course, and typically present with hepatomegaly[6] and growth retardation early in childhood. Mild hypoglycemia, hyperlipidemia, and hyperketosis may occur. Lactic acid and uric acid levels are normal.
[edit] External links
[edit] References
- ^ a b c d e f g eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008
- ^ synd/2506 at Who Named It?
- ^ HERS HG (1959). "[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses.]" (in French). Rev Int Hepatol 9 (1): 35–55. PMID 13646331.
- ^ "eMedicine - Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto". http://www.emedicine.com/ped/TOPIC2564.HTM.
- ^ Ludwig M, Wolfson S, Rennert O (October 1972). "Glycogen storage disease, type 8". Arch. Dis. Child. 47 (255): 830–3. doi:10.1136/adc.47.255.830. PMC 1648209. PMID 4508182. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1648209.
- ^ Newgard CB, Fletterick RJ, Anderson LA, Lebo RV (April 1987). "The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14". Am. J. Hum. Genet. 40 (4): 351–64. PMC 1684093. PMID 2883891. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1684093.
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