限界デキストリン症、糖原病III型
WordNet
- restrict or confine, "I limit you to two visits to the pub a day" (同)circumscribe, confine
- the mathematical value toward which a function goes as the independent variable approaches infinity (同)limit_point, point of accumulation
- the greatest amount of something that is possible or allowed; "there are limits on the amount you can bet"; "it is growing rapidly with no limitation in sight" (同)limitation
- the greatest possible degree of something; "what he did was beyond the bounds of acceptable behavior"; "to the limit of his ability" (同)bound, boundary
- the boundary of a specific area (同)demarcation, demarcation line
- as far as something can go
- small in range or scope; "limited war"; "a limited success"; "a limited circle of friends"
- mediocre (同)modified
- having a specific function or scope; "a special (or specific) role in the mission" (同)special
- including only a part
- not excessive
- not unlimited; "a limited list of choices"
- strictly limiting the reference of a modified word or phrase; "the restrictive clause in `Each made a list of the books that had influenced him limits the books on the list to only those particular ones defined by the clause"
PrepTutorEJDIC
- (空間・行為などの)『限界』,《+『of』+『名』》 / 《しばしば複数形で;単数扱い》『境界』,境界線範囲,区域 / (数量などの)許容量,制限 / 適度に / …‘を'『制限する』
- 限られた,狭い / 《米》(鉄道・バスなどが)特別の,特急の / 《英》(会社が)有限の(《米》incorporated) / 特急列車(バスなど)
- 制限する,限定する
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/06/16 22:36:23」(JST)
[Wiki en表示]
| Glycogen storage disease type III |
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Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain.
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| Classification and external resources |
| Specialty |
endocrinology |
| ICD-10 |
E74.0 |
| ICD-9-CM |
271.0 |
| OMIM |
232400 610860 |
| DiseasesDB |
5302 |
| eMedicine |
med/909 ped/479 |
| MeSH |
D006010 |
| GeneReviews |
- Glycogen Storage Disease Type III
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[edit on Wikidata]
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Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency in glycogen debranching enzymes.
It is also known as Cori's disease in honor of the 1947 Nobel laureates Carl Cori and Gerty Cori. Other names include Forbes disease in honor of clinician Gilbert Burnett Forbes (1915-2003), an American Physician who further described the features of the disorder, or limit dextrinosis, due to the limit dextrin-like structures in cytosol.[1] Limit dextrin is the remaining polymer produced after hydrolysis of glycogen. Without glycogen debranching enzymes to further convert these branched glycogen polymers to glucose, limit dextrinosis abnormally accumulates in the cytoplasm.[2]
Glycogen is a molecule the body uses to store carbohydrate energy. Symptoms of GSD-III are caused by a deficiency of the enzyme amylo-1,6 glucosidase, or debrancher enzyme. This causes excess amounts of an abnormal glycogen to be deposited in the liver, muscles and, in some cases, the heart.
Contents
- 1 Genetic prevalence
- 2 Presentation
- 3 Treatment
- 4 References
- 5 External links
Genetic prevalence
Glycogen storage disease type III has an autosomal recessive pattern of inheritance.
GSD III is inherited in an autosomal recessive pattern, and occurs in about 1 of every 100,000 live births.
Presentation
Clinical manifestations are divided into four classes:
- GSD IIIa, which clinically includes muscle and liver involvement[3]
- GSD IIIb, which clinically has liver involvement but no muscle involvement
- GSD IIIc and GSD IIId, which are rarer phenotypes with altered penetrance
The disease typically presents during infancy with hypoglycemia and failure to thrive. Clinical examination usually reveals hepatomegaly. Muscular disease, including hypotonia and cardiomyopathy, usually occurs later.
The liver pathology typically regresses as patients enter adolescence, and few patients develop cirrhosis during adulthood.
Treatment
Treatment may involve a high-protein diet, in order to facilitate gluconeogenesis.
References
- ^ eMedicine The Continually Updated Clinical Reference
- ^ J. G. Salway (2012). Medical Biochemistry at a Glance. John Wiley & Sons. p. 60.
- ^ Lucchiari S, Fogh I, Prelle A, et al. (2002). "Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area". Am. J. Med. Genet. 109 (3): 183–90. doi:10.1002/ajmg.10347. PMID 11977176.
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Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)
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Sucrose, transport
(extracellular) |
| Disaccharide catabolism |
- Congenital alactasia
- Sucrose intolerance
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| Monosaccharide transport |
- Glucose-galactose malabsorption
- Inborn errors of renal tubular transport (Renal glycosuria)
- Fructose malabsorption
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| Hexose → glucose |
| Monosaccharide catabolism |
| fructose: |
- Essential fructosuria
- Fructose intolerance
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| galactose/galactosemia: |
- GALK deficiency
- GALT deficiency/GALE deficiency
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| Glucose ⇄ glycogen |
| Glycogenesis |
- GSD type 0, glycogen synthase
- GSD type IV, Andersen's, branching
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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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| Glucose ⇄ CAC |
| Glycolysis |
- MODY 2/HHF3
- GSD type VII, Tarui's, phosphofructokinase
- Triosephosphate isomerase deficiency
- Pyruvate kinase deficiency
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| Gluconeogenesis |
- PCD
- Fructose bisphosphatase deficiency
- GSD type I, von Gierke, glucose 6-phosphatase
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| Pentose phosphate pathway |
- Glucose-6-phosphate dehydrogenase deficiency
- Transaldolase deficiency
- 6-phosphogluconate dehydrogenase deficiency
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| Other |
- Hyperoxaluria
- Pentosuria
- Aldolase A deficiency
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External links
- Asociación Española de Enfermos de Glucogenosis
UpToDate Contents
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English Journal
- A new variant in PHKA2 is associated with glycogen storage disease type IXa.
- Rodríguez-Jiménez C1, Santos-Simarro F2, Campos-Barros Á2, Camarena C3, Lledín D3, Vallespín E2, Del Pozo Á2, Mena R1, Lapunzina P2, Rodríguez-Nóvoa S1.
- Molecular genetics and metabolism reports.Mol Genet Metab Rep.2017 Jan 12;10:52-55. doi: 10.1016/j.ymgmr.2017.01.003. eCollection 2017.
- Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation Sequencing (NGS). We identified the previously unde
- PMID 28116244
- Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
- Sentner CP1, Hoogeveen IJ1, Weinstein DA2, Santer R3, Murphy E4, McKiernan PJ5, Steuerwald U6, Beauchamp NJ7, Taybert J8, Laforêt P9, Petit FM10, Hubert A11, Labrune P11, Smit GP1, Derks TG12.
- Journal of inherited metabolic disease.J Inherit Metab Dis.2016 Sep;39(5):697-704. doi: 10.1007/s10545-016-9932-2. Epub 2016 Apr 22.
- Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Patients with GSDIIIa show involvement of liver and cardiac/skeletal muscle, whereas GSDIIIb patients display only
- PMID 27106217
- History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation.
- Rhouma FB1,2, Messai H1,2, Hsouna S1,2, Halim NB1,2, Cherif W1,2, Fadhel SB1,2, Tiar A1,2, Nagara M1,2, Azzouz H3,4, Sfar MT5, Dridi MF3,4, Tebib N3,4, Ayadi A5, Abdelhak S1,2, Kefi R1,2.
- Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis.Mitochondrial DNA A DNA Mapp Seq Anal.2016 Sep;27(5):3194-8. doi: 10.3109/19401736.2015.1007331. Epub 2015 Dec 24.
- Glycogen storage disease type III (GSD III; Cori disease; Forbes disease) is an autosomal recessive inherited metabolic disorder resulting from deficient glycogen debrancher enzyme activity in liver and muscle. In this study, we focused on a single AGL gene mutation p.W1327X in 16 Tunisian patients
- PMID 26704523
Japanese Journal
- Fatal Liver Cirrhosis and Esophageal Variceal Hemorrhage in a Patient with Type IIIa Glycogen Storage Disease
- Okuda Shiho,Kanda Fumio,Takahashi Keiichi [他],KAWANAMI Chiharu,KINOSHITA Yoshikazu,FUJITA Masayuki,MAEDA Sakan,JINNAI Kenji,MATSUSHITA Tatsuo,SUGIO Toshiko,SUGIMOTO Toshitsugu,CHIHARA Kazuo
- Internal medicine 37(12), 1055-1057, 1998-12-01
- A 45-year-old woman with type IIIa glycogen storage disease (GSD IIIa) died of variceal hemorrhage secondary to liver cirrhosis. The postmortem examination disclosed increased intracellular glycogen i …
- NAID 10007010607
- Systematic Diagnosis of Myopathy due to Muscle Glycogenosis
- 以倉 友治,河野 典夫,垂井 清一郎
- Ikagaku Shinpojumu 8(0), 82-87, 1969
- … Larner <I>et al</I>.(1961) found that venous lactate failed to increase after ischemic ex ercise also in limit dextrinosis (debranching enzyme deficiency). … Normal structural glycogen is accumlated in phosphorylase deficiency and limit dextrin-like glycogen in debranching enzyme deficiency.<BR>Finally the assay of the enzyme activity gives the decisive typing of muscle glycogenosis …
- NAID 130003358629
★リンクテーブル★
[★]
- 英
- Cori disease Cori's disease
- 同
- III型糖原病 type III glycogen storage disease、glycogen storage disease type III 糖原病III型
- フォーブス病 Forbes disease、限界デキストリン症 limit dextrinosis、アミロ-1,6-グルコシダーゼ欠損症 amylo-1,6-glucosidase deficiency、グリコーゲン脱分枝酵素欠損症 glycogen debrancher deficiency、デブランチャー欠損症 debrancher deficiency
- 関
- 糖原病、Coris disease
- debrancher enzyme deficiency
- hypoglycemia, hepatomegaly, short-stature, and myopathty
検査
- normal: lactate, uric acid and increased cholesterol and triglyceride levels.
[★]
(amylo-1、3型糖原貯蔵障害
- 関
- Cori's disease、debrancher deficiency、limit dextrinosis、type III glycogen storage disease
[★]
- 英
- limit dextrinosis
- 関
- コリ病、3型糖原貯蔵障害、脱分枝酵素欠損症
[★]
- 関
- circumscription、confine、confinement、define、definite、definition、extent、limitation、margin、qualify、restrain、restraint、restrict、restriction
[★]
- 関
- rate-determining、rate-limiting、utmost
[★]
- 関
- finite