glycogen storage disease type IV

糖原病IV型、4型糖原貯蔵障害

関

amylopectinosis、Andersen disease、type IV glycogen storage disease

WordNet

1. write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
2. 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"
3. (biology) the taxonomic group whose characteristics are used to define the next higher taxon
4. a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
5. all of the tokens of the same symbol; "the word `element contains five different types of character"
6. printed characters; "small type is hard to read"
7. identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
8. an impairment of health or a condition of abnormal functioning
9. (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
10. the act of storing something
11. the commercial enterprise of storing goods and materials
12. the 9th letter of the Roman alphabet (同)i
13. 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

1. 〈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
2. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
3. 女性の話術芸人 =diseur
4. (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
5. 『私は』私が
6. iodineの化学記号
7. 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)

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[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.

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.

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

External links

• Glycogen storage disease type IV at GPnotebook
• Asociación Española de Enfermos de Glucogenosis

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. グリコーゲン分枝酵素欠損症（糖原病IV型、アンダーセン病） glycogen branching enzyme deficiency glycogen storage disease iv andersen disease
• 2. 先天性代謝異常症の特徴的な症状 presenting features of inborn errors of metabolism
• 3. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism
• 4. 小児における先天性代謝異常の評価の概要 overview of the evaluation of inborn errors of metabolism in children
• 5. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn

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

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★リンクテーブル★

リンク元	「糖原病IV型」「amylopectinosis」「type IV glycogen storage disease」「4型糖原貯蔵障害」
関連記事	「disease」「type」「I」「storage」「IV」

「糖原病IV型」

　　[★]

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

「amylopectinosis」

　　[★] アミロペクチン症

関

Andersen disease、glycogen storage disease type IV

「type IV glycogen storage disease」

　　[★]

糖原病IV型、糖原病4型

関

glycogen storage disease type IV

「4型糖原貯蔵障害」

　　[★]

英

glycogen storage disease type IV

関

糖原病IV型

「disease」

　　[★]

• n.

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

• 注意

disease ≠ illness ≠ disorder

　 　 　

「type」

　　[★]

• n.

• 型、タイプ、(生物)タイプ標本

(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

　 　 　 　 　 　 　 　

「I」

　　[★]

• イソロイシン isoleucine
• イノシン inosine
• 阻害剤 inhibitor
• iodine
• ヨード iodide
• I因子 factor I

　 　 　

「storage」

　　[★]

• n.

• 貯蔵

関

pool、pooling、preservation、preserve、reserve、store

　 　 　 　

「IV」

　　[★]

• adj.

• 静脈内の

関

i.v.、intravascular、intravenous、intravenously