WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

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
病気にかかった / 病的な,不健全な(morbid)
cobaltの化学記号

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/03 19:00:02」(JST)

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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.^[1]

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.

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^[2]
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
^ 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.

External links

Asociación Española de Enfermos de Glucogenosis

UpToDate Contents

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1. 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
2. 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
3. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
4. Causes of hypoglycemia in infants and children
5. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features

English Journal

Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency?

Preisler N, Pradel A, Husu E, Madsen KL, Becquemin MH, Mollet A, Labrune P, Petit F, Hogrel JY, Jardel C, Maillot F, Vissing J, Laforêt P.SourceNeuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address: npreisler@hotmail.com.
Molecular genetics and metabolism.Mol Genet Metab.2013 May;109(1):14-20. doi: 10.1016/j.ymgme.2013.02.008. Epub 2013 Feb 19.
Myopathic symptoms in Glycogen Storage Disease Type IIIa (GSD IIIa) are generally ascribed to the muscle wasting that these patients suffer in adult life, but an inability to debranch glycogen likely also has an impact on muscle energy metabolism. We hypothesized that patients with GSD IIIa can expe
PMID 23507172

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

Sun B, Fredrickson K, Austin S, Tolun AA, Thurberg BL, Kraus WE, Bali D, Chen YT, Kishnani PS.SourceDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. baodong.sun@duke.edu
Molecular genetics and metabolism.Mol Genet Metab.2013 Feb;108(2):145-7. doi: 10.1016/j.ymgme.2012.12.002. Epub 2012 Dec 27.
We investigated the feasibility of using recombinant human acid-α glucosidase (rhGAA, Alglucosidase alfa), an FDA approved therapy for Pompe disease, as a treatment approach for glycogen storage disease type III (GSD III). An in vitro disease model was established by isolating primary myoblasts fro
PMID 23318145

Japanese Journal

Fatal Liver Cirrhosis and Esophageal Variceal Hemorrhage in a Patient with Type IIIa Glycogen Storage Disease

, , [他], , , , , , , , ,
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. …
NAID 10007010607

Glycogen storage disease Cori3型を疑い得た1例

森島昭 [他]
小児科臨床 25(2), 187-194, 1972-02
NAID 40017896838

Glucose-6-phosphatase活性低下を伴ったLimit dextrinosis(Cori's disease)の1例

牧淳 [他]
小児科臨床 18(9), 1131-1135, 1965-09
NAID 40017897786

Related Pictures

★リンクテーブル★

リンク元	「コリ病」
拡張検索	「Forbes-Cori disease」
関連記事	「disease」「Co」

「コリ病」

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