Glycogen storage disease type VI
| Glycogen storage disease type VI | |
|---|---|
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | E74.0 |
| ICD-9-CM | 271.0 |
| OMIM | 232700 |
| DiseasesDB | 5311 |
| eMedicine | med/912 ped/2564 |
| Patient UK | Glycogen storage disease type VI |
| MeSH | D006013 |
| GeneReviews | |
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
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 Glycogen-Storage Disease Type VI at eMedicine
- ↑ Hers' disease at Who Named It?
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi
External links
- GeneReview/NIH/UW entry on Glycogen Storage Disease Type VI
- Asociación Española de Enfermos de Glucogenosis
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