Glycogen storage disease type III: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
No edit summary
 
(10 intermediate revisions by 2 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{SI}}
{{CMG}}; {{AE}}


{{SK}} 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
'''For the main page on glycogen storage disease, please click [[Glycogen storage disease|here]]'''<br>
'''For patient information click [[Glycogen storage disease type III (patient information)|here]]'''


{{Infobox_Disease
{{Glycogen storage disease type III}}
| Name          = Glycogen storage disease type III
{{CMG}}; {{AE}}{{Anmol}}
| Image          =
| Caption        =
| DiseasesDB    = 5302
| ICD10          = {{ICD10|E|74|0|e|70}}
| ICD9          = {{ICD9|271.0}}
| ICDO          =
| OMIM          = 232400
| MedlinePlus    =
| MeshID        = D006010
}}


==Overview==
{{SK}} Glycogen storage disease type 3; GSD type 3; GSD 3; Cori disease; Forbes disease; limit dextrinosis; glycogenosis type 3; amylo-1, 6-glucosidase deficiency; debrancher enzyme deficiency; glycogen debranching enzyme deficiency; AGL deficiency; GDE deficiency; 4-alpha-glucanotransferase enzyme deficiency.
'''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.
==[[Glycogen storage disease type III overview|Overview]]==


GSD III is inherited in an [[autosomal recessive]] manner and occurs in about 1 of every 100,000 live births.
==[[Glycogen storage disease type III historical perspective|Historical Perspective]]==


==Historical Perspective==
==[[Glycogen storage disease type III classification|Classification]]==


==Classification==
==[[Glycogen storage disease type III pathophysiology|Pathophysiology]]==


==Pathophysiology==
==[[Glycogen storage disease type III causes|Causes]]==


==Causes==
==[[Glycogen storage disease type III differential diagnosis|Differentiating Glycogen Storage Disease Type III  from other Diseases]]==


==Differentiating {{PAGENAME}} from Other Diseases==
==[[Glycogen storage disease type III epidemiology and demographics|Epidemiology and Demographics]]==


==Epidemiology and Demographics==
==[[Glycogen storage disease type III risk factors|Risk Factors]]==


==Risk Factors==
==[[Glycogen storage disease type III screening|Screening]]==


==Screening==
==[[Glycogen storage disease type III natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
 
==Natural History, Complications, and Prognosis==


==Diagnosis==
==Diagnosis==
Clinical manifestations are divided into four classes:
[[Glycogen storage disease type III diagnostic study of choice|Diagnostic study of choice]] | [[Glycogen storage disease type III history and symptoms|History and Symptoms]] | [[Glycogen storage disease type III physical examination|Physical Examination]] | [[Glycogen storage disease type III electrocardiogram|Electrocardiogram]] | [[Glycogen storage disease type III laboratory findings|Laboratory Findings]] | [[Glycogen storage disease type III x ray|X-Ray Findings]] | [[Glycogen storage disease type III echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Glycogen storage disease type III CT scan|CT-Scan Findings]] | [[Glycogen storage disease type III MRI|MRI Findings]] | [[Glycogen storage disease type III other diagnostic studies|Other Diagnostic Studies]] | [[Glycogen storage disease type III other imaging findings|Other Imaging Findings]]
 
# 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===
 
===History and Symptoms===
 
===Physical Examination===
 
===Laboratory Findings===
 
===Imaging Findings===
 
===Other Diagnostic Studies===


==Treatment==
==Treatment==
Treatment may involve a high [[protein]] diet, in order to facilitate [[gluconeogenesis]].
[[Glycogen storage disease type III medical therapy|Medical Therapy]] | [[Glycogen storage disease type III surgery|Surgery]] | [[Glycogen storage disease type III primary prevention|Primary Prevention]] | [[Glycogen storage disease type III secondary prevention|Secondary Prevention]] | [[Glycogen storage disease type III cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Glycogen storage disease type III future or investigational therapies|Future or Investigational Therapies]]
===Medical Therapy===
 
===Surgery===
 
===Prevention===


==Related chapters==
==Related chapters==
Line 82: Line 43:
{{reflist|2}}
{{reflist|2}}


[[Category:Endocrinology]]
[[Category:Pediatrics]]
[[Category:Gastroenterology]]
[[Category:Hepatology]]
[[de:Cori-Krankheit]]
[[pl:Choroba Coriego]]
[[pl:Choroba Coriego]]
[[ru:Болезнь Форбса]]
[[ru:Болезнь Форбса]]
Line 93: Line 48:
{{WikiDoc Help Menu}}
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}
{{WikiDoc Sources}}
[[Category:Endocrinology]]
[[Category:Hepatology]]
[[Category:Gastroenterology]]
[[Category:Pediatrics]]
[[Category:Up-To-Date]]
[[Category:Genetic disorders]]
[[Category:Metabolic disorders]]

Latest revision as of 18:04, 31 January 2018


For the main page on glycogen storage disease, please click here
For patient information click here

Glycogen storage disease type III Microchapters

Home

Patient Information

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 Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Guidelines for Management

Case Studies

Case #1

Glycogen storage disease type III On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Glycogen storage disease type III

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Glycogen storage disease type III

CDC on Glycogen storage disease type III

Glycogen storage disease type III in the news

Blogs on Glycogen storage disease type III

Directions to Hospitals Treating Psoriasis

Risk calculators and risk factors for Glycogen storage disease type III

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Synonyms and keywords: Glycogen storage disease type 3; GSD type 3; GSD 3; Cori disease; Forbes disease; limit dextrinosis; glycogenosis type 3; amylo-1, 6-glucosidase deficiency; debrancher enzyme deficiency; glycogen debranching enzyme deficiency; AGL deficiency; GDE deficiency; 4-alpha-glucanotransferase 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 study of choice | History and Symptoms | Physical Examination | Electrocardiogram | Laboratory Findings | X-Ray Findings | Echocardiography and Ultrasound | CT-Scan Findings | MRI Findings | Other Diagnostic Studies | Other Imaging Findings

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Related chapters

References


Template:WikiDoc Sources

Retrieved from "https://www.wikidoc.org/index.php?title=Glycogen_storage_disease_type_III&oldid=1435664"