glycogenosis

糖原病

関

Glycogen storage disease(s) (GSDs)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/08 04:25:17」(JST)

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Glycogen storage disease
Glycogen
Classification and external resources
ICD-10	E74.0
ICD-9	271.0
MeSH	D006008

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. 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.

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. In the United States, they are estimated to occur in 1 per 20,000-25,000 births. A Dutch study estimated it to be 1 in 40,000.

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. Now classified with VI. Has been described as X-linked recessive.

• GSD type X: In the past, considered a distinct condition. Now classified with VI.

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- 100,000 births	Yes	Yes	Yes	None	Growth failure	Lactic acidosis, hyperuricemia
GSD type II	acid alpha-glucosidase	Pompe's disease	1 in 40,000 births	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		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	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	Yes	Yes	Yes	None
GSD type VII	muscle phosphofructokinase	Tarui's disease		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	Serum CK: Episodic elevations; Reduced with rest
GSD type 0	glycogen synthase	-		Yes	No	No	Occasional muscle cramping	Growth failure in some cases

References

External links

• Asociación Española de Enfermos de Glucogenosis

UpToDate Contents

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• 1. 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
• 2. 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
• 3. 幼児および小児における間質性肺疾患分類 classification of interstitial lung disease in infants and children
• 4. 肝ホスホリラーゼ欠損症（糖原病VI型、エール病） liver phosphorylase deficiency glycogen storage disease vi hers disease
• 5. シュワッハマン・ダイアモンド症候群 shwachman diamond syndrome

English Journal

• Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.

• Bendroth-Asmussen L1, Aksglaede L, Gernow AB, Lund AM.
• International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.Int J Gynecol Pathol.2016 Jan;35(1):38-40. doi: 10.1097/PGP.0000000000000214.
• A 30-yr-old woman presented with 2 consecutive miscarriages within 7 mo. Histopathologic examination of the placental tissue showed intracytoplasmic inclusion vacuoles with a strong reaction in Periodic acid-Schiff staining and a slightly pallor reaction in alcian blue staining. Additional molecular
• PMID 26166723

• Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III.

• Verbeek RJ1, Sentner CP2, Smit GP2, Maurits NM1, Derks TG2, van der Hoeven JH1, Sival DA3.
• Ultrasound in medicine & biology.Ultrasound Med Biol.2016 Jan;42(1):133-42. doi: 10.1016/j.ultrasmedbio.2015.08.013. Epub 2015 Oct 3.
• In glycogen storage diseases (GSDs), improved longevity has resulted in the need for neuromuscular surveillance. In 12 children and 14 adults with the "hepatic" (GSD-I) and "myopathic" (GSD-III) phenotypes, we cross-sectionally assessed muscle ultrasound density (MUD) and muscle force. Children with
• PMID 26437929

• Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.

• Furtado LV1, Kadri S1, Wurst MN1, Long BC1, Segal JP1, Pytel P1.
• Muscle & nerve.Muscle Nerve.2015 Dec 15. doi: 10.1002/mus.25017. [Epub ahead of print]
• INTRODUCTION: Adult polyglucosan body disease (APBD) is associated with formation of polyglucosan bodies in peripheral nerve branches. Some muscle biopsies show these inclusions in intramuscular nerve branches. It has not been established whether the presence of multiple polyglucosan bodies in intra
• PMID 26670585

Japanese Journal

• グリコーゲン代謝 : 筋肉から脳へ

• 脳と発達 47(2), 94-98, 2015
• NAID 130005005772

• Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene

• Clinical and experimental nephrology 15(5), 745-748, 2011-10-01
• NAID 10030341174

• 小児における胃瘻からの半固形化栄養注入

• 日本小児外科学会雑誌 46(5), 847-851, 2010-08-20
• NAID 110007682254

Related Links

• glycogenosis - definition of glycogenosis in the Medical ...

glycogenosis /gly·co·ge·no·sis/ (-jĕ-no´sis) glycogen storage disease. gly·co·ge·no·sis (gl k-j-n s s) n. Any of various inheritable diseases caused by enzyme deficiencies and characterized by the abnormal accumulation of glycogen in ...

• Glycogenosis | Define Glycogenosis at Dictionary.com

glycogen storage disease noun Pathology. any of several inherited disorders of glycogen metabolism that result in excess accumulation of glycogen in various organs of the body. Also called gly·co·ge·no·sis / ˌglaɪ koʊ dʒəˈnoʊ sɪs / Show Spelled ...

Related Pictures

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★リンクテーブル★

リンク元	「糖原病」
拡張検索	「hepatophosphorylase deficiency glycogenosis」

「糖原病」

　　[★]

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

「hepatophosphorylase deficiency glycogenosis」

　　[★] 肝ホスホリラーゼ欠損性糖原病