Glycogen storage disease
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Glycogen storage diseaseICD-10ICD-9MeSH
Classification and external resources | |
[ندعوك للتسجيل في المنتدى أو التعريف بنفسك لمعاينة هذه الصورة] Glycogen | |
E74.0 | |
271.0 | |
D006008 |
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]
[edit] Types
[ندعوك للتسجيل في المنتدى أو التعريف بنفسك لمعاينة هذه الصورة]
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.)
- GSD type VIII: In the past, considered a distinct condition.[6] Now classified with VI.[7] Has been described as X-linked recessive.[8]
- GSD type X: In the past, considered a distinct condition.[9][10] Now classified with VI.[7]
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 maltase | Pompe's disease | 1 in 60,000- 140,000 births[5] | No | Yes | No | Muscle weakness | *Death by age ~2 years (infantile variant) | heart failure | |
GSD type III | glycogen debrancher | Cori's disease or Forbes' disease | 1 in 100,000 births | Yes | Yes | Yes | Myopathy | |||
GSD type IV | glycogen branching enzyme | Andersen disease | 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[12] | No | No | No | Exercise-induced cramps, Rhabdomyolysis | Renal failure by myoglobinuria | ||
GSD type VI | liver glycogen phosphorylase | Hers' disease | 1 in 65,000- 85,000 births[13] | Yes | Yes | No | None | |||
GSD type VII | muscle phosphofructokinase | Tarui's disease | No | No | No | Exercise-induced muscle cramps and weakness | growth retardation | Haemolytic anaemia | ||
GSD type IX | phosphorylase kinase, PHKA2 | - | Yes | No | 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[14] | Serum CK: Episodic elevations; Reduced with rest[14] | ||
GSD type 0 | glycogen synthase | - | Yes | No | No | Occasional muscle cramping |
- ^ "glycogen storage disease" at Dorland's Medical Dictionary
- ^ 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. - ^ 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.
- ^ a b eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009
- ^ a b 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. - ^ 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.
- ^ a b "eMedicine - Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto".
- ^ "Definition: glycogen storage disease type VIII from Online Medical Dictionary".
- ^ Warren MF, Hamilton PB (January 1981). "Glycogen storage disease type X caused by ochratoxin A in broiler chickens". Poult. Sci. 60 (1): 120–3. PMID 6940112.
- ^ 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.
- ^ The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD This page was created in October 2006.
- ^ [ندعوك للتسجيل في المنتدى أو التعريف بنفسك لمعاينة هذا الرابط]
- ^ eMedicine
Specialties > Pediatrics: Genetics and Metabolic Disease >
Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008 - ^ a b [ندعوك للتسجيل في المنتدى أو التعريف بنفسك لمعاينة هذا الرابط]
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Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271) Sucrose, transport (extracellular) Hexose → glucose Glucose ⇄ glycogen Glucose ⇄ CAC Pentose phosphate pathway Other <table id="collapsibleTable0" class="nowraplinks collapsible autocollapse navbox-inner" style="border-spacing: 0pt; background: none repeat scroll 0% 0% transparent; color: inherit;" cellspacing="0"><tr></tr><tr style="height: 2px;"><td> </td></tr><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-odd"> Disaccharide catabolism Monosaccharide transport <table class="nowraplinks navbox-subgroup" style="border-spacing: 0pt;" cellspacing="0"><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-odd"> Lactose intolerance · Sucrose intolerance </td></tr><tr style="height: 2px;"><td> </td></tr><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-odd"> Glucose-galactose malabsorption · Inborn errors of renal tubular transport (Renal glycosuria) · Fructose malabsorption </td></tr></table> </td></tr><tr style="height: 2px;"><td> </td></tr><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-odd"> Monosaccharide catabolism <table class="nowraplinks navbox-subgroup" style="border-spacing: 0pt;" cellspacing="0"><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-even"> fructose: Essential fructosuria · Fructose intolerance galactose/galactosemia : GALK deficiency · GALT deficiency/GALE deficiency </td></tr></table> </td></tr><tr style="height: 2px;"><td> </td></tr><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-even"> Glycogenesis Glycogenolysis <table class="nowraplinks navbox-subgroup" style="border-spacing: 0pt;" cellspacing="0"><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-odd"> GSD type 0, glycogen synthase · GSD type IV, Andersen's, branching </td></tr><tr style="height: 2px;"><td> </td></tr><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-even"> extralysosomal: GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase · GSD type III, Cori's, debranching lysosomal/LSD: GSD type II, Pompe's, glucosidase </td></tr></table> </td></tr><tr style="height: 2px;"><td> </td></tr><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-odd"> Glycolysis Gluconeogenesis <table class="nowraplinks navbox-subgroup" style="border-spacing: 0pt;" cellspacing="0"><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-odd"> MODY 2/HHF3 · GSD type VII, Tarui's, phosphofructokinase · Triosephosphate isomerase deficiency · Pyruvate kinase deficiency </td></tr><tr style="height: 2px;"><td> </td></tr><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-even"> PCD · Fructose bisphosphatase deficiency · GSD type I, von Gierke, glucose 6-phosphatase </td></tr></table> </td></tr><tr style="height: 2px;"><td> </td></tr><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-odd"> Glucose-6-phosphate dehydrogenase deficiency · Transaldolase deficiency </td></tr><tr style="height: 2px;"><td> </td></tr><tr><td style="text-align: left; border-left-width: 2px; border-left-style: solid; width: 100%; padding: 0px;" class="navbox-list navbox-even"> Hyperoxaluria (Primary hyperoxaluria) · Pentosuria </td></tr><tr style="height: 2px;"><td> </td></tr><tr><td class="navbox-abovebelow" style="background: none repeat scroll 0% 0% transparent; padding: 0px;" colspan="2"> <table class="nowraplinks navbox-subgroup" style="border-spacing: 0pt;" cellspacing="0"><tr><td colspan="2" style="width: 100%; padding: 0px; background: none repeat scroll 0% 0% transparent; color: inherit;" class="navbox-list navbox-odd"> <table class="navbox-columns-table" style="text-align: left; width: 100%;" cellspacing="0"><tr style="vertical-align: top;"><td style="padding: 0px; text-align: center; background: none repeat scroll 0% 0% rgb(204, 204, 255); width: 10em;"> M: MET </td><td style="border-left: 2px solid rgb(253, 253, 253); padding: 0px; text-align: center; background: none repeat scroll 0% 0% white; width: 10em;"> mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m </td><td style="border-left: 2px solid rgb(253, 253, 253); padding: 0px; text-align: center; background: none repeat scroll 0% 0% silver; width: 10em;"> k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon </td><td style="border-left: 2px solid rgb(253, 253, 253); padding: 0px; text-align: center; background: none repeat scroll 0% 0% rgb(204, 204, 255); width: 10em;"> m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m) </td></tr></table> <table cellpadding="3"><tr><td align="left" valign="middle">[ندعوك للتسجيل في المنتدى أو التعريف بنفسك لمعاينة هذه الصورة]</td></tr></table> <table><tr> <td> [ندعوك للتسجيل في المنتدى أو التعريف بنفسك لمعاينة هذه الصورة] From MW King </td><td align="left" valign="top">Progressive changes Glycolysis of glucose to pyruvate. [ندعوك للتسجيل في المنتدى أو التعريف بنفسك لمعاينة هذه الصورة] = Adenosine [ندعوك للتسجيل في المنتدى أو التعريف بنفسك لمعاينة هذه الصورة] = Phosphate [ندعوك للتسجيل في المنتدى أو التعريف بنفسك لمعاينة هذه الصورة] From University of Virginia </td></tr></table> </td></tr></table> </td></tr></table> |