HOME PRODUCTS SERVICES COMPANY CONTACT FAQ

Glycogen Storage Disease Type III (Cori's Disease)

Subscribe to New Research on Glycogen Storage Disease Type III

An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.

Also Known As:

Cori's Disease; Forbes Disease; Cori Disease; Deficiency, Debrancher; Glycogen Debrancher Deficiency; Glycogen Storage Disease Type 3; 3, Glycogenosis; Coris Disease; Debrancher Deficiencies; Debrancher Deficiencies, Glycogen; Debrancher Deficiency, Glycogen; Deficiencies, Debrancher; Deficiencies, Glycogen Debrancher; Deficiency, Glycogen Debrancher; Dextrinoses, Limit; Dextrinosis, Limit; Disease, Cori; Disease, Cori's; Disease, Forbes; Glycogen Debrancher Deficiencies; Glycogenosis 3s; Limit Dextrinoses; Debrancher Deficiency; Glycogen Debranching Enzyme Deficiency; Glycogenosis 3; Limit Dextrinosis

Networked: 87 relevant articles (1 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Glycogen Storage Disease (Glycogenosis)
2.	Glycogen Storage Disease Type I
3.	Glycogen Storage Disease Type IV (Andersen's Disease)
4.	Liver Cell Adenoma (Hepatocellular Adenoma)
5.	Fibrosis (Cirrhosis)

Experts

1.	Okubo, Minoru: 7 articles (02/2015 - 01/2002)
2.	Murase, Toshio: 5 articles (09/2013 - 01/2002)
3.	Comi, G P: 5 articles (03/2012 - 05/2002)
4.	Kishnani, Priya S: 4 articles (06/2014 - 07/2010)
5.	Melis, D: 4 articles (06/2006 - 05/2002)
6.	Bresolin, N: 4 articles (06/2006 - 05/2002)
7.	Lucchiari, S: 4 articles (06/2006 - 05/2002)
8.	Abdelhak, Sonia: 3 articles (07/2013 - 03/2012)
9.	Tebib, Neji: 3 articles (07/2013 - 03/2012)
10.	Mili, Amira: 3 articles (11/2012 - 01/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycogen Storage Disease Type III:

1.	Glucose (Dextrose)FDA LinkGeneric 01/01/1990 - "Changes in the isotopomer distribution of plasma 13C glucose were found only in glycogen storage disease type III patients and control subjects. " 10/01/2013 - "Cycle ergometry in patients with glycogenosis type III (debrancher deficiency) without overt weakness has documented exercise intolerance relieved by glucose infusion, consistent with the glycogenolytic block. " 01/01/2009 - "We also recommend serial follow up of glycogen storage disease type III patients with an oral glucose tolerance test for early detection and management of glucose intolerance." 06/01/1968 - "Glucose and glycogen metabolism in erythrocytes from normal and glycogen storage disease type III subjects." 09/01/1989 - "Glucose carbon recycling, endogenous glucose production, and glucose turnover rates were measured, by stable isotope methodology, in five patients with glycogen storage disease type I (GSD-I), two patients with glycogen storage disease type III (GSD-III), and three control children. "
2.	amylo-1,6-glucosidaseIBA 05/01/1971 - "Studies in glycogen storage disease type 3: kinetics of amylo-1,6-glucosidase in human erythrocytes." 02/01/1966 - "A new substrate for the detection of amylo-1,6-glucosidase, and its application to the study of glycogen-storage disease type 3." 01/01/2011 - "[Evaluation of a fluorimetric for determining the activity of amylo-1,6-glucosidase in leukocytes for confirming the diagnosis of glycogen storage disease type III]." 06/01/2008 - "Glycogen storage disease type III (GSD-III) is an autosomal recessive disorder caused by the lack of amylo-1,6-glucosidase (AGL), one of the catalytic domains of the glycogen debranching enzyme. " 06/01/2008 - "Glycogen storage disease type III (GSD III; OMIM 232400) is an autosomal recessive deficiency of the glycogen debrancher enzyme, amylo-1,6-glucosidase (EC 3.2.1.33). "
3.	Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA 05/01/2015 - "Glycogen storage disease type III (GSDIII) is a rare autosomal recessive disorder due to glycogen debranching enzyme (GDE) deficiency. " 02/03/2015 - "Glycogen storage disease type III is caused by mutations in both alleles of the AGL gene, which leads to reduced activity of glycogen-debranching enzyme. " 11/01/2014 - "Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL. " 07/01/2013 - "Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease type III, an autosomal recessive inherited disorder. " 01/01/2013 - "Glycogen Storage Disease type III (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme. "
4.	GlycogenIBA 06/01/2014 - "Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen debrancher enzyme and is characterised by clinical variability. " 09/23/2013 - "Glycogen storage disease type III (GSD III) is an inherited disorder characterized by the accumulation of abnormal glycogen in the liver. " 12/01/2010 - "Glycogen storage disease type III (GSD III) results from mutations of the AGL gene encoding the glycogen debrancher enzyme. " 06/01/2009 - "A deficiency in activities of AGL causes excessive accumulation of glycogen with short branched outer chains and results in glycogen storage disease type III (GSD III; MIM #232 400), an autosomal recessive inborn disorder of glycogen metabolism. " 10/01/2007 - "Taken together, these results indicate that binding to glycogen crucially regulates the stability of AGL and, further, that its ubiquitination may play an important role in the pathophysiology of both Lafora and Cori's disease."
5.	GlucosidasesIBA 11/01/2009 - "Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations." 11/30/1961 - "A case of "dextrinosis limit" (absence of amylo-1, 6-glucosidase)]." 02/01/2013 - "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). " 11/01/2009 - "Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency in the glycogen debranching enzyme (gene symbol: AGL) with two enzyme activities: transferase and glucosidase. " 04/01/1978 - "27 of them has type II glycogen disorders (Pompe's disease, with an intralysozymal deficit of acid maltase) and 6 with type III glycogen disorders Forbes disease, with a deficit in amylo-1-6-glucosidase). "
6.	TransferasesIBA 01/01/2009 - "Glycogen storage disease type III (GSD III) is caused by mutations in AGL which encodes for a single protein with two enzyme activities: oligo-1, 4-1, 4-glucantransferase (transferase) and amylo-1, 6-glucosidase. " 06/01/1992 - "Assessments of debranching enzyme or debranching enzyme transferase activity in muscle can be used to predict whether patients with glycogen storage disease type III will develop myopathy and cardiomyopathy." 11/01/2009 - "Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency in the glycogen debranching enzyme (gene symbol: AGL) with two enzyme activities: transferase and glucosidase. "
7.	alpha-Glucosidases (Acid Maltase)IBA 07/01/1996 - "Deficiency of glycogen debranching enzyme and acid alpha-glucosidase cause glycogen storage disease type III and II, respectively. " 04/01/1978 - "27 of them has type II glycogen disorders (Pompe's disease, with an intralysozymal deficit of acid maltase) and 6 with type III glycogen disorders Forbes disease, with a deficit in amylo-1-6-glucosidase). " 02/01/2000 - "The static glycogen storage myopathies include: GSD I or Pompe's disease (acid maltase or (-glucosidase deficiency), GSD II or Cori-Forbes disease (debranching enzyme deficiency), and GSD IV or Andersen's disease (branching enzyme deficiency). "
8.	caloreenIBA 01/01/2012 - "In glycogen storage disease type III (GSD III), deficiency of the debranching enzyme causes storage of an intermediate glycogen molecule (limit dextrin) in the affected tissues. " 12/01/2009 - "Glycogen storage disease type III (GSD III) is caused by a deficiency in debranching enzyme, which leads to an accumulation of abnormal glycogen called limit dextrin in affected tissues. " 03/01/2012 - "Glycogen storage disease type III (GSD III) is an autosomal recessive inborn error of metabolism caused by mutations in the glycogen debranching enzyme amylo-1,6-glucosidase gene, which is located on chromosome 1p21.2. GSD III is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and cardiac muscle and/or liver, with great variability in resultant organ dysfunction. "
9.	Starch (Cornstarch)IBA 01/01/2015 - "To determine the individual fasting tolerance for patients with glycogen storage disease type III (GSD III) and to assess their linear growth velocity after tailoring of dose intervals of oral uncooked cornstarch. " 01/01/2015 - "The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III." 07/01/1988 - "Three patients with glycogen storage disease type I (GSD-I), three with glycogen storage disease type III (GSD-III) and one with pyruvate carboxylase deficiency (PCD) could be successfully switched over from continuous nocturnal gastric drip feeding (GDF) to nocturnal feeding with uncooked cornstarch in yoghurt or "quark" (CSF) at the age of 4-20 years. "
10.	TransaminasesIBA 05/01/2011 - "Markedly elevated serum transaminases in glycogen storage disease type III." 04/01/2002 - "Amylo-1,6-glucosidase deficiency (glycogen storage disease type III) is associated with hypoglycaemia, hepatomegaly, raised transaminases and in most cases skeletal myopathy and cardiomyopathy. "

Therapies and Procedures

1.	Liver Transplantation 01/01/1994 - "The development of hepatocellular adenoma has been recognized in association with glycogen storage disease type I and, less often, with glycogen storage disease type III, but, to our knowledge, it has not been reported in glycogen storage disease type IV. We had the opportunity to study an 11-month-old male infant who underwent orthotopic liver transplantation for cirrhosis that developed in the setting of glycogen storage disease type IV. A clinically unsuspected hepatocellular adenoma was present in the explanted liver. "
2.	Enzyme Replacement Therapy 02/01/2013 - "Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III."
3.	Carbohydrate-Restricted Diet (Low Carbohydrate Diet) 01/01/2014 - "Glycogen storage disease type III: modified Atkins diet improves myopathy."
4.	Cardiopulmonary Bypass (Heart-Lung Bypass) 09/01/2002 - "Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect."