Glycogen storage disease
Glycogen storage disease | |
Glycogen | |
ICD-10 | E74.0 |
ICD-9 | 271.0 |
MeSH | D006008 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Glycogen storage disease (synonyms: glycogenosis, dextrinosis) is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
Types
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.[1] Now classified with VI.[2] Has been described as X-linked recessive.[3]
- GSD type X: In the past, considered a distinct condition.[4][5] Now classified with VI. 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[6] || 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[7] || 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[8] || 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[9] || Serum CK: Episodic elevations; Reduced with rest[9] || |- | GSD type 0 || glycogen synthase || - || || Yes || No || No || Occasional muscle cramping || ||
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Gross Pathological Findings
Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology
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Pompe's Disease, Glycogen Storage Disease Type II. Child in crib
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Pompe's Disease, Glycogen Storage Disease Type II
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Pompe's Disease, Glycogen Storage Disease Type II
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Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient
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Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient
Microscopic Pathological Findings
Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology
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Muscle: Glycogen Storage Disease
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Muscle: Glycogen Storage Disease
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Nerve: Glycogen Storage Disease Macrophages; Longitudinal Section of Peripheral Nerve
Heart & Liver in Glycogen Storage Disease
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References
- ↑ Ludwig M, Wolfson S, Rennert O (1972). "Glycogen storage disease, type 8". Arch. Dis. Child. 47 (255): 830–3. doi:10.1136/adc.47.255.830. PMC 1648209. PMID 4508182. Unknown parameter
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ignored (help) - ↑ "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 (1981). "Glycogen storage disease type X caused by ochratoxin A in broiler chickens". Poult. Sci. 60 (1): 120–3. PMID 6940112. Unknown parameter
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ignored (help) - ↑ Huff WE, Doerr JA, Hamilton PB (1979). "Decreased glycogen mobilization during ochratoxicosis in broiler chickens". Appl. Environ. Microbiol. 37 (1): 122–6. PMC 243410. PMID 760630. Unknown parameter
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ignored (help) - ↑
- ↑ http://mcardlesdisease.org/
- ↑ eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008
- ↑ 9.0 9.1 http://neuromuscular.wustl.edu/msys/glycogen.html#enolase
Template:Metabolic pathology de:Glykogenspeicherkrankheit it:Glicogenosi