同: GSDs

WordNet

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

(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）』「2016/04/12 14:58:06」(JST)

wiki en

Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.^[1]

GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine.^[2]

Prevalence

Overall, according to a study in British Columbia, approximately 2.3 children per 100 000 births (1 in 43,000) have some form of glycogen storage disease.^[3] In the United States, they are estimated to occur in 1 per 20,000-25,000 births.^[4] A Dutch study estimated it to be 1 in 40,000.^[5]

Types

Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain.

There are eleven (11) distinct diseases that are commonly considered to be glycogen storage diseases (some previously thought to be distinct have been reclassified). (Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.)..

GSD type VIII: In the past, considered a distinct condition.^[6] Now classified with VI.^[7] Has been described as X-linked recessive.^[8]
GSD type X: In the past, considered a distinct condition.^[9]^[10] Now classified with VI.^[7]

Number	Enzyme deficiency	Eponym	Incidence	Hypo- glycemia?	Hepato- megaly?	Hyperlip- idemia?	Muscle symptoms	Development/ prognosis	Other symptoms
GSD type I	glucose-6-phosphatase	von Gierke's disease	1 in 50,000^[4]- 100,000^[11] births	Yes	Yes	Yes	None	Growth failure	Lactic acidosis, hyperuricemia
GSD type II	acid alpha-glucosidase	Pompe's disease	1 in 40,000 births^[5]-50,000 ^[12]	No	Yes	No	Muscle weakness	*Death by age ~2 years (infantile variant)	heart failure
GSD type III	glycogen debranching enzyme	Cori's disease or Forbes' disease	1 in 100,000 births	Yes	Yes	Yes	Myopathy
GSD type IV	glycogen branching enzyme	Andersen disease	1 to 500,000 ^[12]	No	Yes, also cirrhosis	No	None	Failure to thrive, death at age ~5 years
GSD type V	muscle glycogen phosphorylase	McArdle disease	1 in 100,000^[13]-500,000 ^[12]	No	No	No	Exercise-induced cramps, Rhabdomyolysis		Renal failure by myoglobinuria, second wind phenomenon
GSD type VI	liver glycogen phosphorylase	Hers' disease	1 in 65,000- 85,000 births^[14]	Yes	Yes	Yes ^[15]	None
GSD type VII	muscle phosphofructokinase	Tarui's disease	1 in 1,000,000 ^[16]	No	No	No	Exercise-induced muscle cramps and weakness	growth retardation	Haemolytic anaemia
GSD type IX	phosphorylase kinase, PHKA2			Yes	Yes	Yes	None	Delayed motor development, Growth retardation
GSD type XI	glucose transporter, GLUT2	Fanconi-Bickel syndrome		Yes	Yes	No	None
GSD type XII	Aldolase A	Red cell aldolase deficiency		?	?	?	Exercise intolerance, cramps
GSD type XIII	β-enolase	-		?	?	?	Exercise intolerance, cramps	Increasing intensity of myalgias over decades^[17]	Serum CK: Episodic elevations; Reduced with rest^[17]
GSD type 0	glycogen synthase	-		Yes	No	No	Occasional muscle cramping	Growth failure in some cases

References

^ "glycogen storage disease" at Dorland's Medical Dictionary
^ Stegelmeier BL, Molyneux RJ, Elbein AD, James LF (May 1995). "The lesions of locoweed (Astragalus mollissimus), swainsonine, and castanospermine in rats". Veterinary Pathology 32 (3): 289–98. doi:10.1177/030098589503200311. PMID 7604496. |access-date= requires |url= (help)
^ Applegarth DA, Toone JR, Lowry RB (January 2000). "Incidence of inborn errors of metabolism in British Columbia, 1969-1996". Pediatrics 105 (1): e10. doi:10.1542/peds.105.1.e10. PMID 10617747.
^ ^a ^b eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009
^ ^a ^b Ausems MG, Verbiest J, Hermans MP, et al. (September 1999). "Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling". Eur. J. Hum. Genet. 7 (6): 713–6. doi:10.1038/sj.ejhg.5200367. PMID 10482961.
^ 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.
^ ^a ^b "eMedicine - Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto".
^ "Definition: glycogen storage disease type VIII from Online Medical Dictionary".
^ Warren MF, Hamilton PB (January 1981). "Glycogen storage disease type X caused by ochratoxin A in broiler chickens". Poult. Sci. 60 (1): 120–3. doi:10.3382/ps.0600120. PMID 6940112.
^ Huff WE, Doerr JA, Hamilton PB (January 1979). "Decreased glycogen mobilization during ochratoxicosis in broiler chickens". Appl. Environ. Microbiol. 37 (1): 122–6. PMC 243410. PMID 760630.
^ The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD This page was created in October 2006.
^ ^a ^b ^c [1]
^ http://mcardlesdisease.org/
^ eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008
^ Goldman, Lee; Schafer, Andrew (2012). Goldman's Cecil medicine (24th ed.). Philadelphia: Elsevier/Saunders. p. 1356. ISBN 978-1-4377-1604-7.
^ "Rare Disease Database". Orpha.net. Retrieved 2015-09-20.
^ ^a ^b http://neuromuscular.wustl.edu/msys/glycogen.html#enolase

External links

Asociación Española de Enfermos de Glucogenosis

UpToDate Contents

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1. グルコース-6-ホスファターゼ欠損症（糖原病I型、フォンギールケ病） glucose 6 phosphatase deficiency glycogen storage disease i von gierke disease
2. 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
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. 肝グリコーゲン合成酵素欠損症（糖原病0型） liver glycogen synthase deficiency glycogen storage disease 0
5. 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

English Journal

Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.

Zhang J1, Yuan Y2, Ma M3, Liu Y2, Zhang W4, Yao F4, Qiu Z5.
Gene.Gene.2017 Sep 5;627:149-156. doi: 10.1016/j.gene.2017.06.026. Epub 2017 Jun 13.
PMID 28627441

Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.

Tsai AC1,2, Hung YW1,3, Harding C1, Koeller DM1, Wang J4,5, Wong LC5.
American journal of medical genetics. Part A.Am J Med Genet A.2017 Sep;173(9):2500-2504. doi: 10.1002/ajmg.a.38333. Epub 2017 Jun 28.
PMID 28657663

A novel image-based high throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease.

Solmesky LJ1, Khazanov N2, Senderowitz H2, Wang P3, Minassian BA4, Ferreira IM5, Yue WW6, Lossos A7, Weil M8, Kakhlon O9.
The Biochemical journal.Biochem J.2017 Sep 1. pii: BCJ20170469. doi: 10.1042/BCJ20170469. [Epub ahead of print]
PMID 28827282

Japanese Journal

A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type Ⅲ

Ko Jae Sung,Moon Jin Soo,Seo Jeong Kee [他]
Journal of human genetics 59(1), 42-45, 2014-01
NAID 40019946805

G6PT inhibition model using HL-60 cells and induction of ROS production through PKC/NOX2 activation: Clinical condition for elucidation of glycogen storage disease type Ib

Satoh Daisuke,Ohte Mariko,Maeda Tohru,Nakamura Katsunori,Matsunaga Tamihide
Biological and Pharmaceutical Bulletin, 2014
… Glycogen storage disease type Ib (GSD-Ib) is caused by mutations in the glucose-6-phosphate transporter (G6PT) gene, which is involved in glycogen metabolism. … To elucidate NAD(P)H oxidase (NOX) 2-associated mechanisms in neutrophil cell membranes, we examined the mechanism of reactive oxygen species (ROS) production after differentiation from HL-60 cells, and the collapse of glycogen metabolism because of G6PT deficiency. …
NAID 130003382133

Current status of hepatic glycogen storage disease in Japan : clinical manifestations, treatments and long-term outcomes

Kido Jun,Nakamura Kimitoshi,Matsumoto Shirou [他]
Journal of human genetics 58(5), 285-292, 2013-05
NAID 40019651938

Related Pictures

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★リンクテーブル★

リンク元	「糖原病」「病理学」「常染色体劣性遺伝病」「グリコーゲン蓄積病」「糖原貯蔵障害」
拡張検索	「glycogen storage disease type III」「lysosomal glycogen storage disease without glucosidase deficiency」「type VII glycogen storage disease」
関連記事	「disease」「storage」「glycogen」

「糖原病」

Glycogen storage disease
	Glycogen
Classification and external resources
Specialty	endocrinology
ICD-10	E74.0
ICD-9-CM	271.0
MeSH	D006008
	[edit on Wikidata]

　　[★]

英: glycogen storage disease GSD GSDs , glycogenosis
同: グリコーゲン病、グリコーゲン蓄積病
関: グリコーゲン、解糖系

first aid step1 2006 p.98

定義

グリコーゲン代謝系酵素欠損により、組織にグリコーゲンが蓄積する疾患群

分類 (FB.304,HIM.2458)

型	欠損酵素	組織	グリコーゲン構造	病名	発症時期	症状
I	グルコース-6-ホスファターゼ	肝臓	正常	フォン・ギールケ病	childhood	growth retardation, enlarged liver and kidney, hypoglycemia, elevated blood lactate, cholesterol, triglycerides, and uric acid
II	α-1,4-グルコシダーゼ	リソソーム	正常	ポンペ病	childhood
III	アミロ-1,6-グルコシダーゼ debrancher enzyme deficiency	全器官	最外層分子がないか非常に短い	コリ病	childhood	hypoglycemia, hepatomegaly, short-stature, and myopathty
IV	アミロ-(1,4→1,6)-トランスグリコシラーゼ brancher enzyme deficiency	肝臓、全器官?	非常に長い枝無し鎖	アンダーセン病		infantile failure to thrive, cirrhosis, liver failure, and extreme hypotonia.
V	グリコーゲンホスホリラーゼ muscle phosphorylase deficiency	筋肉	正常	マッカードル病	adult	exercise intolerance, muscle cramps, myoglobinuria on strenuous exercise, increased CK
VI	グリコーゲンホスホリラーゼ hepatic phosphorylase deficiency	肝臓	正常	エルス病		hematomegaly and variable hypoglycemia
VII	6-ホスホフルクト-1-キナーゼ	筋肉	正常	垂井病
VIII	ホスホリラーゼキナーゼ	肝臓	正常	X染色体ホスホリラーゼキナーゼ欠損症
IX	ホスホリラーゼキナーゼ	全器官	正常		childhoog
0	グリコーゲンシンターゼ	肝臓	正常だが少量