amylo-1,6-glucosidase deficiency

WordNet

1. a hydrocarbon radical that occurs in many organic compounds

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/03 12:23:57」(JST)

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Glycogen storage disease type III
Classification and external resources
Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain.
ICD-10	E74.0
ICD-9	271.0
OMIM	232400
DiseasesDB	5302
eMedicine	med/909 ped/479
MeSH	D006010

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.

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:

1. GSD IIIa, which clinically includes muscle and liver involvement
2. GSD IIIb, which clinically has liver involvement but no muscle involvement
3. 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.

External links

• GeneReviews/NCBI/NIH/UW entry on Glycogen Storage Disease Type III
• OMIM entries on Glycogen Storage Disease Type III

References

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. リソソーム酸α-グルコシダーゼ欠損症（ポンペ病、糖原病II型、酸マルターゼ欠損症） lysosomal acid alpha glucosidase deficiency pompe disease glycogen storage disease ii acid maltase deficiency
• 3. 糖尿病の治療におけるα-グルコシダーゼ阻害剤およびリパーゼ阻害剤 alpha glucosidase inhibitors and lipase inhibitors for treatment of diabetes mellitus
• 4. 乳児および小児における低血糖症の原因 causes of hypoglycemia in infants and children
• 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

• Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.

• Jagadisan B1, Ranganath P.
• Indian pediatrics.Indian Pediatr.2017 Sep 15;54(9):775-776.
• PMID 28984260

• Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.

• Decostre V1, Laforêt P2, De Antonio M3, Kachetel K4, Canal A5, Ollivier G5, Nadaj-Pakleza A4, Petit FM6, Wahbi K7, Fayssoil A5, Eymard B4, Behin A4, Labrune P8, Hogrel JY5.
• Molecular genetics and metabolism.Mol Genet Metab.2017 Aug 30. pii: S1096-7192(17)30417-1. doi: 10.1016/j.ymgme.2017.08.010. [Epub ahead of print]
• PMID 28888851

Japanese Journal

• A Case of Glycogen Storage Disease Type III (Glycogen Debranching Enzyme Deficiency) with Liver Cirrhosis and Hypertrophic Cardiomyopathy.

• The Tohoku Journal of Experimental Medicine 176(3), 181-185, 1995
• NAID 130003494792

• 糖原解鎖酵素欠損症患者の線維芽細胞の特性

• 産業医大誌 12(4), 411-418, 1990
• NAID 110001260405

• B-13. 血球による糖原病の病型診断とその問題点

• 臨床化学シンポジウム 18(0), 110-113, 1979
• NAID 130003355255

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★リンクテーブル★

リンク元	「コリ病」「アミロ-1,6-グルコシダーゼ欠損症」
関連記事	「deficiency」

「コリ病」

　　[★]

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.

「アミロ-1,6-グルコシダーゼ欠損症」

　　[★]

英

deficiency of amylo-1, 6-glucosidase, amylo-1,6-glucosidase deficiency

関

糖原病III型

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve