Glycogen storage disease type VI

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Glycogen storage disease type VI
Classification and external resources
Glycogen.png
ICD-10 E74.0
ICD-9 271.0
OMIM 232700
DiseasesDB 5311
eMedicine med/912 ped/2564
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[edit]

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[edit]

References[edit]

  1. ^ a b c d e f g h Glycogen-Storage Disease Type VI at eMedicine
  2. ^ Hers' disease at Who Named It?
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi

External links[edit]