糖原病
WordNet
- an impairment of health or a condition of abnormal functioning
- (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
- the act of storing something
- the commercial enterprise of storing goods and materials
- one form in which body fuel is stored; stored primarily in the liver and broken down into glucose when needed by the body (同)animal_starch
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
- グリコーゲン,糖原
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/12/16 07:57:26」(JST)
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| Glycogen storage disease |
| Classification and external resources |
|
Glycogen
|
| ICD-10 |
E74.0 |
| ICD-9 |
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]
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.)
- 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 alpha-glucosidase |
Pompe's disease |
1 in 40,000 births[5] |
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 |
|
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, recovery or second wind phenomenone |
| GSD type VI |
liver glycogen phosphorylase |
Hers' disease |
1 in 65,000- 85,000 births[13] |
Yes |
Yes |
Yes [14] |
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 |
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[15] |
Serum CK: Episodic elevations; Reduced with rest[15] | |
| GSD type 0 |
glycogen synthase |
- |
|
Yes |
No |
No |
Occasional muscle cramping |
|
|
References
- ^ "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. doi:10.3382/ps.0600120. 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.
- ^ 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
- ^ Goldman, Lee; Schafer, Andrew (2012). Goldman's Cecil medicine (24th ed.). Philadelphia: Elsevier/Saunders. p. 1356. ISBN 978-1-4377-1604-7.
- ^ a b http://neuromuscular.wustl.edu/msys/glycogen.html#enolase
|
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)
|
|
Sucrose, transport
(extracellular) |
|
Disaccharide catabolism
|
- Lactose intolerance
- Sucrose intolerance
|
|
|
Monosaccharide transport
|
- Glucose-galactose malabsorption
- Inborn errors of renal tubular transport (Renal glycosuria)
- Fructose malabsorption
|
|
|
| Hexose → glucose |
|
Monosaccharide catabolism
|
|
fructose:
|
- Essential fructosuria
- Fructose intolerance
|
|
|
galactose/galactosemia:
|
- GALK deficiency
- GALT deficiency/GALE deficiency
|
|
|
|
| Glucose ⇄ glycogen |
|
Glycogenesis
|
- GSD type 0, glycogen synthase
- GSD type IV, Andersen's, branching
|
|
|
Glycogenolysis
|
|
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
|
|
|
|
| Glucose ⇄ CAC |
|
Glycolysis
|
- MODY 2/HHF3
- GSD type VII, Tarui's, phosphofructokinase
- Triosephosphate isomerase deficiency
- Pyruvate kinase deficiency
|
|
|
Gluconeogenesis
|
- PCD
- Fructose bisphosphatase deficiency
- GSD type I, von Gierke, glucose 6-phosphatase
|
|
|
| Pentose phosphate pathway |
- Glucose-6-phosphate dehydrogenase deficiency
- Transaldolase deficiency
|
|
| Other |
- Hyperoxaluria
- Pentosuria
- Aldolase A deficiency
|
|
|
|
mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
|
k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
|
m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
|
|
|
|
External links
- Asociación Española de Enfermos de Glucogenosis
UpToDate Contents
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English Journal
- Transgenic Knockdown of Cardiac Sodium/Glucose Cotransporter 1 (SGLT1) Attenuates PRKAG2 Cardiomyopathy, Whereas Transgenic Overexpression of Cardiac SGLT1 Causes Pathologic Hypertrophy and Dysfunction in Mice.
- Ramratnam M1, Sharma RK2, D'Auria S2, Lee SJ2, Wang D2, Huang XY2, Ahmad F3.
- Journal of the American Heart Association.J Am Heart Assoc.2014 Aug 4;3(4). pii: e000899. doi: 10.1161/JAHA.114.000899.
- BACKGROUND: The expression of a novel cardiac glucose transporter, SGLT1, is increased in glycogen storage cardiomyopathy secondary to mutations in PRKAG2. We sought to determine the role of SGLT1 in the pathogenesis of PRKAG2 cardiomyopathy and its role in cardiac structure and function.METHODS AND
- PMID 25092788
- Glycogen storage disease type III: A novel Agl knockout mouse model.
- Pagliarani S1, Lucchiari S1, Ulzi G1, Violano R2, Ripolone M2, Bordoni A1, Nizzardo M1, Gatti S3, Corti S1, Moggio M2, Bresolin N1, Comi GP4.
- Biochimica et biophysica acta.Biochim Biophys Acta.2014 Aug 1. pii: S0925-4439(14)00250-6. doi: 10.1016/j.bbadis.2014.07.029. [Epub ahead of print]
- Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL. Essential features of this disease are hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Progressive skeletal myopathy, neuropathy,
- PMID 25092169
- Stereotactic radiofrequency ablation for liver tumors in inherited metabolic disorders.
- Karall D1, Scholl-Bürgi S, Widmann G, Albrecht U, Niedermayr K, Maurer K, Ausserer B, Huemer M, Bale R.
- Cardiovascular and interventional radiology.Cardiovasc Intervent Radiol.2014 Aug;37(4):1027-33. doi: 10.1007/s00270-013-0756-2. Epub 2013 Oct 23.
- PURPOSE: Both glycogen storage disease type Ia (GSD Ia) and tyrosinemia type I (TYR I) are inherited metabolic disorders that can be complicated by formation of liver adenomas in juvenile/young adult age and/or development of hepatocellular carcinoma. We describe the first application of stereotacti
- PMID 24149831
Japanese Journal
- Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type Ⅲ
- Mili Amira,Charfeddine Ilhem Ben,Mamai Ons [他],CHERIF Wafa,ADALA Labiba,AMARA Abdelbasset,PAGLIARANI Serena,LUCCHIARI Sabrina,AYADI Abdelkarim,TEBIB Neji,HARBI Abdelaziz,BOUGUILA Jihene,H'MIDA Dorra,SAAD Ali,LIMEM Khalifa,COMI GP,GRIBAA Moez
- Journal of human genetics 57(3), 170-175, 2012-03-01
- NAID 10030711965
- 杉江 秀夫
- 日本内科学会雑誌 100(5), 1213-1219, 2011-05-10
- 糖原病に合併する腎障害は，（1）筋型糖原病に起因する横紋筋融解症に合併する場合と（2）糖原病I型（von Gierke病）によるものが重要である．横紋筋融解症では筋細胞から逸脱したミオグロビンなどが腎血管収縮，組織障害，尿細管障害などを起こし腎不全に至る．糖原病1型では低血糖に伴う二次性の代謝異常が腎障害を引き起こす．I型では適切な食事療法などで代謝のコントロールを良好に保つことで，腎合併症が改善 …
- NAID 10029097029
- 糖原病 (Glycogen Storage Diseases) VIII型患者に生じた下顎骨骨折の1例
- 米崎 広崇,丹下 和久,福田 幸太 [他],比嘉 輝夫,川上 美和
- 愛知学院大学歯学会誌 = The Aichi-Gakuin journal of dental science 45(1), 171-174, 2007-03-31
- NAID 10019575660
Related Links
- Glycogen storage diseases are rare genetic disorders. Approximately, 1 in 20000 babies has some form of glycogen storage disease. Being rare diseases; research in this field is not as widespread as other common liver ... ...
- Wolfsdorf JI, Holm IA, Weinstein DA. Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am 1999;28:801–823. Chen YT. Glycogen storage diseases. In ...
★リンクテーブル★
[★]
- 疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder
[★]
- 関
- pool、pooling、preservation、preserve、reserve、store
[★]
グリコーゲン