糖原病VIII型
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Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/05/02 01:21:12」(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
|
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)
|
|
Sucrose, transport
(extracellular) |
|
Disaccharide catabolism
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- Lactose intolerance
- Sucrose intolerance
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|
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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:
|
- Essential fructosuria
- Fructose intolerance
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|
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galactose/galactosemia:
|
- GALK deficiency
- GALT deficiency/GALE deficiency
|
|
|
|
| Glucose ⇄ glycogen |
|
Glycogenesis
|
- GSD type 0, glycogen synthase
- GSD type IV, Andersen's, branching
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|
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Glycogenolysis
|
|
extralysosomal:
|
- 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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|
|
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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
|
|
|
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
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|
|
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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
|
m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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|
|
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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
- [C2 neurinoma with intracranial extension: a case report].
- Sonobe S1, Murakami K, Kohama M, Watanabe M, Kumabe T, Tominaga T.
- No shinkei geka. Neurological surgery.No Shinkei Geka.2009 Sep;37(9):893-7.
- We report a rare case presenting with a C2 neurinoma, which extended beyond the foramen magnum, producing a huge mass at the clivus. A 10-year-old boy with medical history of glycogenosis type VIII and attention-deficit hyperactivity disorder had been suffering from progressing foramen magnum syndro
- PMID 19764424
Japanese Journal
- B-13. 血球による糖原病の病型診断とその問題点
Related Links
- Glycogenosis type VIII information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues. ... Glycogenosis type VIII: Related Topics These medical condition or symptom topics may be ...
- MLA style: "glycogenosis type VIII". Encyclopædia Britannica. Encyclopædia Britannica Online. Encyclopædia Britannica Inc., 2015. Web. 26 Sep. 2015 < http://www.britannica.com/science/glycogenosis-type-VIII >. APA style: ...
★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
[★]
- (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
- form、mode、pattern、type
[★]
[★]
糖原病
- 関
- Glycogen storage disease(s) (GSDs)