Glycogen storage disease

Glycogen storage disease

Classification and external resources
Specialty endocrinology
ICD-10 E74.0
ICD-9-CM 271.0
MeSH D006008

Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.[1]

GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine.[2]

Prevalence

Overall, according to a study in British Columbia, approximately 2.3 children per 100 000 births (1 in 43,000) have some form of glycogen storage disease.[3] In the United States, they are estimated to occur in 1 per 20,000-25,000 births.[4] A Dutch study estimated it to be 1 in 40,000.[5]

Types

Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain.

There are eleven (11) distinct diseases that are commonly considered to be glycogen storage diseases (some previously thought to be distinct have been reclassified). (Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.)..

Number Enzyme deficiency Eponym Incidence Hypo-
glycemia? 		Hepato-
megaly? 		Hyperlip-
idemia? 		Muscle symptoms Development/ prognosis Other symptoms
GSD type I glucose-6-phosphatase von Gierke's disease 1 in 50,000[4]- 100,000[11] births Yes Yes Yes None Growth failure Lactic acidosis, hyperuricemia
GSD type II acid alpha-glucosidase Pompe's disease 1 in 40,000 births[5]-50,000 [12] No Yes No Muscle weakness *Death by age ~2 years (infantile variant) heart failure
GSD type III glycogen debranching enzyme Cori's disease or Forbes' disease 1 in 100,000 births Yes Yes Yes Myopathy
GSD type IV glycogen branching enzyme Andersen disease 1 to 500,000 [12] No Yes,
also
cirrhosis 		No None Failure to thrive, death at age ~5 years
GSD type V muscle glycogen phosphorylase McArdle disease 1 in 100,000[13]-500,000 [12] No No No Exercise-induced cramps, Rhabdomyolysis Renal failure by myoglobinuria, second wind phenomenon
GSD type VI liver glycogen phosphorylase Hers' disease 1 in 65,000- 85,000 births[14] Yes Yes Yes [15] None initially benign, growth retardation follows.
GSD type VII muscle phosphofructokinase Tarui's disease 1 in 1,000,000 [16] No No No Exercise-induced muscle cramps and weakness growth retardation Haemolytic anaemia
GSD type IX phosphorylase kinase, PHKA2 Yes Yes Yes None Delayed motor development, Growth retardation
GSD type XI glucose transporter, GLUT2 Fanconi-Bickel syndrome Yes Yes No None
GSD type XII Aldolase A Red cell aldolase deficiency ? ? ? Exercise intolerance, cramps
GSD type XIII β-enolase - ? ? ? Exercise intolerance, cramps Increasing intensity of myalgias over decades[17] Serum CK: Episodic elevations; Reduced with rest[17]
GSD type 0 glycogen synthase - Yes No No Occasional muscle cramping Growth failure in some cases

References

  1. ↑ "glycogen storage disease" at Dorland's Medical Dictionary
  2. ↑ Stegelmeier BL, Molyneux RJ, Elbein AD, James LF (May 1995). "The lesions of locoweed (Astragalus mollissimus), swainsonine, and castanospermine in rats". Veterinary Pathology 32 (3): 289–98. doi:10.1177/030098589503200311. PMID 7604496.
  3. ↑ Applegarth DA, Toone JR, Lowry RB (January 2000). "Incidence of inborn errors of metabolism in British Columbia, 1969-1996". Pediatrics 105 (1): e10. doi:10.1542/peds.105.1.e10. PMID 10617747.
  4. 1 2 eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009
  5. 1 2 Ausems MG, Verbiest J, Hermans MP, et al. (September 1999). "Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling". Eur. J. Hum. Genet. 7 (6): 713–6. doi:10.1038/sj.ejhg.5200367. PMID 10482961.
  6. ↑ 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.
  7. 1 2 "eMedicine - Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto".
  8. ↑ "Definition: glycogen storage disease type VIII from Online Medical Dictionary".
  9. ↑ Warren MF, Hamilton PB (January 1981). "Glycogen storage disease type X caused by ochratoxin A in broiler chickens". Poult. Sci. 60 (1): 120–3. doi:10.3382/ps.0600120. PMID 6940112.
  10. ↑ Huff WE, Doerr JA, Hamilton PB (January 1979). "Decreased glycogen mobilization during ochratoxicosis in broiler chickens". Appl. Environ. Microbiol. 37 (1): 122–6. PMC 243410. PMID 760630.
  11. ↑ The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD This page was created in October 2006.
  12. 1 2 3
  13. ↑ http://mcardlesdisease.org/
  14. ↑ eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008
  15. ↑ Goldman, Lee; Schafer, Andrew (2012). Goldman's Cecil medicine (24th ed.). Philadelphia: Elsevier/Saunders. p. 1356. ISBN 978-1-4377-1604-7.
  16. ↑ "Rare Disease Database". Orpha.net. Retrieved 2015-09-20.
  17. 1 2 http://neuromuscular.wustl.edu/msys/glycogen.html#enolase

External links

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