glycogen storage disease type III

(amylo-1、3型糖原貯蔵障害

関

Cori's disease、debrancher deficiency、limit dextrinosis、type III 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）』「2015/09/30 21:44:10」(JST)

wiki en

[Wiki en表示]

Glycogen storage disease type III
Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain.
Classification and external resources
Specialty	endocrinology
ICD-10	E74.0
ICD-9-CM	271.0
OMIM	232400 610860
DiseasesDB	5302
eMedicine	med/909 ped/479
MeSH	D006010
GeneReviews	Glycogen Storage Disease Type III

Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency in glycogen debranching enzymes.

It is also known as Cori's disease in honor of the 1947 Nobel laureates Carl Cori and Gerty Cori. Other names include Forbes disease in honor of clinician Gilbert Burnett Forbes (1915-2003), an American Physician who further described the features of the disorder, or limit dextrinosis.

Glycogen is a molecule the body uses to store carbohydrate energy. Symptoms of GSD-III are caused by a deficiency of the enzyme amylo-1,6 glucosidase, or debrancher enzyme. This causes excess amounts of an abnormal glycogen to be deposited in the liver, muscles and, in some cases, the heart.

Genetic prevalence

Glycogen storage disease type III has an autosomal recessive pattern of inheritance.

GSD III is inherited in an autosomal recessive pattern, and occurs in about 1 of every 100,000 live births.

Presentation

Clinical manifestations are divided into four classes:

1. GSD IIIa, which clinically includes muscle and liver involvement
2. GSD IIIb, which clinically has liver involvement but no muscle involvement
3. GSD IIIc and GSD IIId, which are rarer phenotypes with altered penetrance

The disease typically presents during infancy with hypoglycemia and failure to thrive. Clinical examination usually reveals hepatomegaly. Muscular disease, including hypotonia and cardiomyopathy, usually occurs later.

The liver pathology typically regresses as patients enter adolescence, and few patients develop cirrhosis during adulthood.

Treatment

Treatment may involve a high-protein diet, in order to facilitate gluconeogenesis.

References

External links

• 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. グリコーゲン脱分枝酵素欠損症（糖原病III型） glycogen debrancher deficiency glycogen storage disease iii
• 2. 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
• 3. 乳児および小児における低血糖症の原因 causes of hypoglycemia in infants and children
• 4. 乳酸アシドーシスの原因 causes of lactic acidosis
• 5. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features

English Journal

• Pathological characteristics of glycogen storage disease III in skeletal muscle.

• Gershen LD1, Prayson BE2, Prayson RA3.
• Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia.J Clin Neurosci.2015 Jun 9. pii: S0967-5868(15)00229-5. doi: 10.1016/j.jocn.2015.03.041. [Epub ahead of print]
• We report a 25-year-old man with glycogenosis III who presented with a progressive 2year history of fatigue, hand stiffness and cramping. The glycogenoses are a group of rare metabolic disorders which develop as a result of deficiencies in various enzymes involved in the metabolism of glycogen. Some
• PMID 26067541

• Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.

• Hogrel JY1, van den Bogaart F, Ledoux I, Ollivier G, Petit F, Koujah N, Béhin A, Stojkovic T, Eymard B, Voermans N, Laforêt P.
• European journal of neurology : the official journal of the European Federation of Neurological Societies.Eur J Neurol.2015 Jun;22(6):933-40. doi: 10.1111/ene.12685. Epub 2015 Mar 5.
• BACKGROUND AND PURPOSE: This was a retrospective study to assess the diagnostic value of the non-ischaemic forearm exercise test in detecting McArdle's disease.METHODS: The study is a retrospective diagnostic study over 15 years (1999-2013) on a referred sample of patients suffering from exercise i
• PMID 25740218

• Lessons from two cases: is Fabry disease the correct diagnosis?

• Kiykim E1, Aktuglu Zeybek CA1, Zubarioglu T1, Aydin A1.
• BMJ case reports.BMJ Case Rep.2015 May 12;2015. pii: bcr2014208150. doi: 10.1136/bcr-2014-208150.
• Fabry disease (FD) is an X linked inherited lysosomal storage disorder with complex multisystem involvement; it is caused by deficiency of the lysosomal enzyme α-galactosidase. Deficient enzyme activity leads to a wide spectrum of clinical manifestations consisting of dermatological, ophthalmologic
• PMID 25969484

Japanese Journal

• 糖原病III a型に慢性膵炎を合併し糖尿病を生じた1例

• 齋藤 幸枝,土持 若葉,上野 浩晶,野間 健之,秋山 寛,水田 雅也,石川 眞理,松倉 茂,福田 冬季子,杉江 秀夫,中里 雅光
• 糖尿病 51(7), 615-618, 2008-07-30
• NAID 10022611070

• A Japanese Patient With Cardiomyopathy Caused by a Novel Mutation R285X in the AGL Gene

• Ogimoto Akiyoshi,Okubo Minoru,Okayama Hideki,Shin Yoon S.,Endo Yoriko,Ebara Tetsu,Inoue Katsuji,Ohtsuka Tomoaki,Tahara Hideki,Murase Toshio,Higaki Jistuo
• Circulation journal : official journal of the Japanese Circulation Society 71(10), 1653-1656, 2007-09-20
• … Left ventricular hypertrophy (LVH) is primarily or secondarily caused by a cardiovascular or systemic disease. … The patient was diagnosed with glycogen storage disease type IIIa (GSD-IIIa). … Echocardiography showed that he had severe LVH, and concomitant hepatomegaly and hypoglycemia, which led to measurement of glycogen debranching enzyme (GDE) activity ; …
• NAID 110006391147

Related Links

• Glycogen storage disease type III - Genetics Home Reference

Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and ...

• Glycogen Storage Disease Type III - NCBI Bookshelf

Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with

• Glycogen Storage Disease Type III.

CLINICAL CHARACTERISTICS: Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of affected

Related Pictures

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★リンクテーブル★

リンク元	「コリ病」「3型糖原貯蔵障害」「type III glycogen storage disease」
関連記事	「disease」「type」「II」「I」「storage」

「コリ病」

　　[★]

英

Cori disease Cori's disease

同

III型糖原病 type III glycogen storage disease、glycogen storage disease type III 糖原病III型

フォーブス病 Forbes disease、限界デキストリン症 limit dextrinosis、アミロ-1,6-グルコシダーゼ欠損症 amylo-1,6-glucosidase deficiency、グリコーゲン脱分枝酵素欠損症 glycogen debrancher deficiency、デブランチャー欠損症 debrancher deficiency

関

糖原病、Coris disease

• debrancher enzyme deficiency

• hypoglycemia, hepatomegaly, short-stature, and myopathty

検査

• normal: lactate, uric acid and increased cholesterol and triglyceride levels.

「3型糖原貯蔵障害」

　　[★]

英

glycogen storage disease type III

関

コリ病、糖原病III型、脱分枝酵素欠損症、限界デキストリン症

「type III glycogen storage disease」

　　[★]

(amylo-1、糖原病3型

関

glycogen storage disease type III

「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

　 　 　 　 　 　 　 　

「II」

　　[★]

• 蛍光像増倍管 image intensifier
• インスリン分泌指数 インスリノゲニック・インデックス insulinogenic index
• 黄疸指数 icterus index

「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