WordNet
- an impairment of health or a condition of abnormal functioning
- 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
- (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
- 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）』「2012/12/11 20:13:06」(JST)
[Wiki en表示]
| Glycogen storage disease type III |
| Classification and external resources |
Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain. |
| ICD-10 |
E74.0 |
| ICD-9 |
271.0 |
| OMIM |
232400 |
| DiseasesDB |
5302 |
| eMedicine |
med/909 ped/479 |
| MeSH |
D006010 |
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.[1]
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.
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Contents
- 1 Genetic prevalence
- 2 Presentation
- 3 Treatment
- 4 External links
- 5 References
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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:
- GSD IIIa, which clinically includes muscle and liver involvement[2]
- GSD IIIb, which clinically has liver involvement but no muscle involvement
- 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.
External links
- GeneReviews/NCBI/NIH/UW entry on Glycogen Storage Disease Type III
- OMIM entries on Glycogen Storage Disease Type III
References
- ^ eMedicine The Continually Updated Clinical Reference
- ^ Lucchiari S, Fogh I, Prelle A, et al. (2002). "Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area". Am. J. Med. Genet. 109 (3): 183–90. doi:10.1002/ajmg.10347. PMID 11977176.
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Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)
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Sucrose, transport
(extracellular) |
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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 |
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Monosaccharide catabolism
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fructose: Essential fructosuria · Fructose intolerance
galactose/galactosemia : GALK deficiency · GALT deficiency/GALE deficiency
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| Glucose ⇄ glycogen |
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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: 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
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| Glucose ⇄ CAC |
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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 (Primary hyperoxaluria) · Pentosuria
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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
- Functional potencies of dopamine agonists and antagonists at human dopamine D(2) and D(3) receptors.
- Tadori Y, Forbes RA, McQuade RD, Kikuchi T.SourceQuests Research Institute, Otsuka Pharmaceutical Co., Ltd., Tokushima, 771-0192, Japan.
- European journal of pharmacology.Eur J Pharmacol.2011 Sep;666(1-3):43-52. Epub 2011 Jun 1.
- We measured the functional agonist potencies of dopamine agonists including antiparkinson drugs, and functional antagonist potencies of antipsychotics at human dopamine D(2) and D(3) receptors. In vitro pharmacological assessment included inhibition of forskolin-stimulated cAMP accumulation and the
- PMID 21658377
Japanese Journal
- Review : Crohn's disease-the role of nutritional therapy
Related Links
- Forbes' Disease synonyms, Forbes' Disease antonyms. Information about Forbes' Disease in the free online English dictionary and encyclopedia. Forbes' Disease - definition of Forbes' Disease by The Free Dictionary http://www ...
- Forbes disease (forbz) n. See type 3 glycogenosis. gly·co·ge·no·sis type 3 (glī'kō-jĕ-nō'sis tīp) Disorder due to amylo-1,6-glucosidase deficiency, resulting in accumulation of abnormal glycogen with short outer chains in liver and ...
Related Pictures
★リンクテーブル★
[★]
- 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.
[★]
- 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