糖原病VIII型、8型糖原貯蔵障害
- 関
- type VIII 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
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
- 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
- 〈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
- 病気にかかった / 病的な,不健全な(morbid)
- 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)』「2014/11/14 15:57:56」(JST)
[Wiki en表示]
Glycogen storage disease type VI |
Classification and external resources |
Glycogen
|
ICD-10 |
E74.0 |
ICD-9 |
271.0 |
OMIM |
232700 |
DiseasesDB |
5311 |
eMedicine |
med/912 ped/2564 |
MeSH |
D006013 |
GeneReviews |
- Glycogen Storage Disease Type VI
|
Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system.[1]
It is also known as "Hers' disease", after Henri G. Hers, who characterized it in 1959.[2][3]
The scope of GSD VI now also includes glycogen storage disease type VIII,[1] IX[1] (caused by phosphorylase b kinase deficiency) and X[1] (deficiency of protein kinase A). These were previously considered to be distinct GSD types.[4]
The incidence of GSD VI is approximately 1 case per 65,000–85,000 births,[1] representing approximately 30% all cases of glycogen storage disease.[1] Approximately 75% of these GSD VI cases result from the X-linked recessive forms of phosphorylase kinase deficiency.[1] All other forms are autosomal recessive.[1]
Contents
- 1 Presentation
- 2 See also
- 3 References
- 4 External links
Presentation
Patients generally have a benign course, and typically present with hepatomegaly[5] and growth retardation early in childhood. Mild hypoglycemia, hyperlipidemia, and hyperketosis may occur. Lactic acid and uric acid levels may be normal. However, lactic acidosis may occur during fasting. [6]
See also
References
- ^ a b c d e f g h Glycogen-Storage Disease Type VI at eMedicine
- ^ Hers' disease at Who Named It?
- ^ Hers HG (1959). "[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses.]". Rev Int Hepatol (in French) 9 (1): 35–55. PMID 13646331.
- ^ 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.
- ^ Newgard CB, Fletterick RJ, Anderson LA, Lebo RV (April 1987). "The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14". Am. J. Hum. Genet. 40 (4): 351–64. PMC 1684093. PMID 2883891.
- ^ http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi
External links
- GeneReview/NIH/UW entry on Glycogen Storage Disease Type VI
- Asociación Española de Enfermos de Glucogenosis
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)
|
|
|
|
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.
English Journal
- [Metabolic myopathies--part I: disorders of the carbohydrate metabolism].
- Finsterer J1.
- Fortschritte der Neurologie-Psychiatrie.Fortschr Neurol Psychiatr.2011 Oct;79(10):598-605; quiz 606. doi: 10.1055/s-0031-1281721. Epub 2011 Oct 11.
- PMID 21989512
- Muscle phosphorylase b kinase deficiency revisited.
- Echaniz-Laguna A1, Akman HO, Mohr M, Tranchant C, Talmant-Verbist V, Rolland MO, Dimauro S.
- Neuromuscular disorders : NMD.Neuromuscul Disord.2010 Feb;20(2):125-7. doi: 10.1016/j.nmd.2009.11.004. Epub 2010 Jan 18.
- Muscle phosphorylase b kinase (PHK) deficiency (glycogenosis type VIII) is a rare disorder caused by mutations in the PHKA1 gene encoding the alpha(M) subunit of PHK. Only 5 patients with molecular defects in the X-linked PHKA1 gene have been described until now, and they all presented with exercise
- PMID 20080404
- Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
- Ørngreen MC1, Schelhaas HJ, Jeppesen TD, Akman HO, Wevers RA, Andersen ST, ter Laak HJ, van Diggelen OP, DiMauro S, Vissing J.
- Neurology.Neurology.2008 May 13;70(20):1876-82. doi: 10.1212/01.wnl.0000289190.66955.67. Epub 2008 Apr 9.
- OBJECTIVE: It is unclear to what extent muscle phosphorylase b kinase (PHK) deficiency is associated with exercise-related symptoms and impaired muscle metabolism, because 1) only four patients have been characterized at the molecular level, 2) reported symptoms have been nonspecific, and 3) lactate
- PMID 18401027
Japanese Journal
- 著明な肝腫大と肝機能悪化を認めた糖原病VIII型(X染色体劣性)の3例 : その臨床像と食事療法の効果
- 西垣 敏紀,納谷 保子,巽 尚子,乾 幸治,岡田 伸太郎
- 日本先天代謝異常学会雑誌 13(3), 476, 1997-10-15
- NAID 10018939154
- 糖原病VIII型(X染色体連鎖型と常染色体性劣性型)の長期予後
Related Links
- 1 Feb 2012 ... Glycogen storage disease type VIII symptoms, causes, diagnosis, and treatment information for Glycogen storage disease type VIII (Glycogenosis type 8) with alternative diagnoses, full-text book chapters, misdiagnosis, ...
Related Pictures
★リンクテーブル★
[★]
- 英
- type VIII glycogen storage disease、glycogen storage disease type VIII
- 同
- 8型糖原貯蔵障害、糖原病8型, glycogenosis type VIII、肝ホスホリラーゼキナーゼ欠損症 hepatic phosphorylase kinase deficiency、ホスホリラーゼキナーゼ欠損症 phosphorylase kinase deficiency
[★]
糖原病VIII型、糖原病8型
- 関
- glycogen storage disease type VIII
[★]
- 英
- glycogen storage disease type VIII, GSD VIII
- 関
- 糖原病
[★]
- 英
- glycogen storage disease type VIII
- 関
- 糖原病VIII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
- form、mode、pattern、type
[★]