糖原病
- 関
- Glycogen storage disease(s) (GSDs)
Wikipedia preview
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.[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]
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] |
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[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[13] |
Yes |
Yes |
Yes [14] |
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[15] |
Serum CK: Episodic elevations; Reduced with rest[15] |
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.
- ^ 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.
- ^ 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.
- ^ a b http://neuromuscular.wustl.edu/msys/glycogen.html#enolase
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
|
|
Index of inborn errors of metabolism
|
|
Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
|
|
Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
|
|
Treatment |
|
|
|
External links
- Asociación Española de Enfermos de Glucogenosis
UpToDate Contents
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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
- 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
Related Links
- 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 ...
- 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
★リンクテーブル★
[★]
- 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
|
|
|
|
[★]
肝ホスホリラーゼ欠損性糖原病