Glycogen storage disease type III: Difference between revisions

	Glycogen storage disease type III;
ICD-10	E74.0
ICD-9	271.0
OMIM	232400
DiseasesDB	5302
MeSH	D006010

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Revision as of 19:24, 1 December 2017

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Synonyms and keywords: Glycogen storage disease type III; Cori's disease; Forbes disease; limit dextrinosis; glycogenosis type 3; amylo-1, 6-glucosidase deficiency; debrancher enzyme deficiency; glycogen debranching enzyme deficiency

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Glycogen storage disease type III from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

Related chapters

References

Template:WikiDoc Sources

@@ Line 19: / Line 19: @@
 ==Overview==
-'''Glycogen storage disease type III''' is a [[genetic disorder]], an [[inborn error of metabolism]] characterized by a deficiency in glycogen [[debranching enzyme]]s. 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 a clinician who further described the features of the disorder, or '''limit dextrinosis'''.<ref> http://www.emedicine.com/ped/topic479.htm.</ref>
-[[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.
-GSD III is inherited in an [[autosomal recessive]] manner and occurs in about 1 of every 100,000 live births.
 ==Historical Perspective==
@@ Line 33: / Line 28: @@
 ==Causes==
-==Differentiating {{PAGENAME}} from Other Diseases==
+==Differentiating Glycogen storage disease type III from Other Diseases==
 ==Epidemiology and Demographics==
@@ Line 44: / Line 39: @@
 ==Diagnosis==
-Clinical manifestations are divided into four classes:
-# GSD IIIa, which clinically includes [[muscle]] and [[liver]] involvement <ref>Lucchiari S et al., Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area. Am J Med Genet 2002 May 1;109(3):183-90.</ref>
-# 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.
 ===Diagnostic Criteria===
@@ Line 67: / Line 53: @@
 ==Treatment==
-Treatment may involve a high [[protein]] diet, in order to facilitate [[gluconeogenesis]].
 ===Medical Therapy===

Glycogen storage disease type III
ICD-10	E74.0
ICD-9	271.0
OMIM	232400
DiseasesDB	5302
MeSH	D006010