糖原病IV型、4型糖原貯蔵障害
- 関
- amylopectinosis、Andersen disease、type IV glycogen storage disease
WordNet
- write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
- a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
- (biology) the taxonomic group whose characteristics are used to define the next higher taxon
- a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
- all of the tokens of the same symbol; "the word `element contains five different types of character"
- printed characters; "small type is hard to read"
- identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
- 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
- the 9th letter of the Roman alphabet (同)i
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
PrepTutorEJDIC
- 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
- (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
- 『私は』私が
- iodineの化学記号
- 病気にかかった / 病的な,不健全な(morbid)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/07/07 02:44:11」(JST)
[Wiki en表示]
Glycogen storage disease type IV |
Classification and external resources |
Glycogen
|
ICD-10 |
E74.0 |
ICD-9 |
271.0 |
OMIM |
232500 263570 607839 |
DiseasesDB |
5303 |
eMedicine |
med/910 ped/97 |
MeSH |
D006011 |
GeneReviews |
- Glycogen Storage Disease Type IV
- Adult Polyglucosan Body Disease
|
Glycogen storage disease type IV is a rare hereditary metabolic disorder.
Contents
- 1 Synonyms
- 2 Eponym
- 3 Human pathology
- 4 Horse pathology
- 5 References
- 6 External links
Synonyms
It is also known as:-
- Glycogenosis type IV,
- Glycogen Branching Enzyme Deficiency (GBED),
- polyglucosan body disease.
- Amylopectinosis
Eponym
The eponym "Andersen's disease" is sometimes used, for Dorothy Hansine Andersen.[1][2]
Human pathology
It is a result of the absence of the glycogen branching enzyme amylo-1,4-1,6 transglucosidase, which is critical in the production of glycogen. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules have a low solubility which leads to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver. The probable end result is cirrhosis and death within 5 years. In adult polyglucosan body disease the activity of the enzyme is higher and symptoms do not appear until later in life.
Horse pathology
Main article: Glycogen branching enzyme deficiency
References
- ^ Andersen's disease (Dorothy Hansine Andersen) at Who Named It?
- ^ Andersen DH (1956). "Familial cirrhosis of the liver with storage of abnormal glycogen". Lab. Invest. 5 (1): 11–20. PMID 13279125.
External links
- Glycogen storage disease type IV at GPnotebook
- Asociación Española de Enfermos de Glucogenosis
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)
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Sucrose, transport
(extracellular) |
Disaccharide catabolism
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- Lactose intolerance
- Sucrose intolerance
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Monosaccharide transport
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- Glucose-galactose malabsorption
- Inborn errors of renal tubular transport (Renal glycosuria)
- Fructose malabsorption
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Hexose → glucose |
Monosaccharide catabolism
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fructose:
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- Essential fructosuria
- Fructose intolerance
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galactose/galactosemia:
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- GALK deficiency
- GALT deficiency/GALE deficiency
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Glucose ⇄ glycogen |
Glycogenesis
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- GSD type 0, glycogen synthase
- GSD type IV, Andersen's, branching
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Glycogenolysis
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extralysosomal:
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- GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase
- GSD type III, Cori's, debranching
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- lysosomal/LSD: GSD type II, Pompe's, glucosidase
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Glucose ⇄ CAC |
Glycolysis
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- MODY 2/HHF3
- GSD type VII, Tarui's, phosphofructokinase
- Triosephosphate isomerase deficiency
- Pyruvate kinase deficiency
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Gluconeogenesis
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- PCD
- Fructose bisphosphatase deficiency
- GSD type I, von Gierke, glucose 6-phosphatase
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Pentose phosphate pathway |
- Glucose-6-phosphate dehydrogenase deficiency
- Transaldolase deficiency
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Other |
- Hyperoxaluria
- Pentosuria
- Aldolase A deficiency
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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UpToDate Contents
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English Journal
- HOIL and water: the two faces of HOIL-1 deficiency.
- Ombrello MJ, Kastner DL, Milner JD.
- Nature immunology.Nat Immunol.2012 Dec;13(12):1133-5. doi: 10.1038/ni.2471.
- PMID 23160206
- Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
- Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C.SourceSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York, USA.
- Nature immunology.Nat Immunol.2012 Dec;13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28.
- We report the clinical description and molecular dissection of a new fatal human inherited disorder characterized by chronic autoinflammation, invasive bacterial infections and muscular amylopectinosis. Patients from two kindreds carried biallelic loss-of-expression and loss-of-function mutations in
- PMID 23104095
- Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.
- Escobar LF, Wagner S, Tucker M, Wareham J.SourceMedical Genetics and Neurodevelopmental Pediatric Center-Peyton Manning Children Hospital, Indianapolis, IN 46260, USA. lfescoba@stvincent.org
- Journal of perinatology : official journal of the California Perinatal Association.J Perinatol.2012 Oct;32(10):810-3. doi: 10.1038/jp.2011.178.
- A total of 11 types of glycogen storage disorders have been recognized with variable clinical presentations. Type IV, also known as Andersen disease, represents a rare subtype that can induce severe clinical findings early in life. We report on a patient with early fetal onset of symptoms with sever
- PMID 23014386
Japanese Journal
- Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV
- MIZUOCHI Tatsuki,KIMURA Akihiko,NISHIURA Hiroshi,INOMATA Yukihiro,OKAJIMA Hideaki,SUGIE Hideo,MITSUBUCHI Hiroshi,YAGI Minoru,KAGE Masayoshi
- Pediatrics international : official journal of the Japan Pediatric Society 53(1), 129-130, 2011-02-01
- NAID 10029557461
- Congenital form of glycogen storage disease type IV : A case report and a review of the literature
- MARUYAMA KEINCHI,SUZUKI TOMOKO,KOIZUMI TAKENOBU,SUGIE HIDEO,FUKUDA TOKIKO,ITO MASATAKA,HIRATO JUNKO
- Pediatrics international : official journal of the Japan Pediatric Society 46(4), 474-477, 2004-08-01
- NAID 10018369311
- Glycogen Storage Disease Associated With Left Ventricular Aneurysm in an Elderly Patient
- Toda Genji,Yoshimuta Tsuyoshi,Kawano Hiroaki,Yano Katsusuke
- Japanese circulation journal 65(5), 462-464, 2001-04-20
- … Glycogen storage disease (GSD) types II, III, IV, and V may be associated with cardiomyopathy, but, with the exception of type III GSD, adult cases are extremely rare. … The damage caused by glycogen deposition was strictly confined to the myocardium. … However, a left ventricular endomyocardial biopsy specimen revealed central vacuolar degeneration of myocytes with depositions of glycogen. …
- NAID 110002567089
★リンクテーブル★
[★]
- 英
- type IV glycogen storage disease、glycogen storage disease type IV
- 関
- 4型糖原貯蔵障害、アミロペクチン症、アンダースン病、糖原病4型
[★]
アミロペクチン症
- 関
- Andersen disease、glycogen storage disease type IV
[★]
糖原病IV型、糖原病4型
- 関
- glycogen storage disease type IV
[★]
- 英
- glycogen storage disease type IV
- 関
- 糖原病IV型
[★]
- 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
[★]
- (windows)ファイル内容表示(linux -> cat])
- ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
- 関
- form、mode、pattern、type specimen、typed
[★]
[★]
- 関
- pool、pooling、preservation、preserve、reserve、store
[★]
- 関
- i.v.、intravascular、intravenous、intravenously