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Glycogen Storage Disease Type IV (Andersen's Disease)

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An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.

Also Known As:

Andersen's Disease; Glycogenosis, Type IV; Amylopectinosis; Andersen Disease; Deficiency, Brancher; Glycogen Branching Enzyme Deficiency; Glycogen Storage Disease Type 4; Type IV Glycogenosis; Amylopectinoses; Andersens Disease; Brancher Deficiencies; Deficiencies, Brancher; Disease, Andersen; Disease, Andersen's; Glycogenoses, Type IV; Glycogenosis 4s; Type IV Glycogenoses; Brancher Deficiency; Glycogenosis 4

Networked: 80 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Glycogen Storage Disease Type I
2.	Fibrosis (Cirrhosis)
3.	Glycogen Storage Disease Type III (Cori's Disease)
4.	Fucosidosis
5.	Liver Cell Adenoma (Hepatocellular Adenoma)

Experts

1.	Chen, Yuan-Tsong: 5 articles (02/2012 - 04/2006)
2.	Dimauro, Salvatore: 4 articles (01/2014 - 10/2006)
3.	Bali, Deeksha S: 4 articles (06/2012 - 03/2008)
4.	DiMauro, S: 4 articles (12/2010 - 06/2001)
5.	Craigen, William J: 3 articles (12/2015 - 11/2011)
6.	DiMauro, Salvatore: 3 articles (12/2015 - 04/2004)
7.	Akman, H Orhan: 3 articles (11/2011 - 10/2006)
8.	Valberg, S J: 3 articles (02/2009 - 01/2003)
9.	Mickelson, J R: 3 articles (02/2009 - 01/2003)
10.	Bruno, C: 3 articles (07/2007 - 01/2004)

Drugs and Biologics

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

1.	GlycogenIBA 09/10/1999 - "Enzyme studies of fibroblasts from the 3rd fetus showed deficient activity of glycogen brancher enzyme, indicating that this is a new, severe form of glycogenosis type IV with onset in the early second trimester." 01/01/2015 - "Ultrastructural examination revealed accumulation of structurally abnormal forms of filamentous glycogen, confirming the diagnosis as Andersen disease. " 06/01/2012 - "Glycogen storage disease type IV is a rare autosomal recessive disorder of glycogen metabolism caused by mutations in the GBE1 gene that encodes the 1,4-alpha-glucan-branching enzyme 1. Its clinical presentation is variable, with the most common form presenting in early childhood with primary hepatic involvement. " 03/01/1999 - "This combination of histologic and ultrastructural features characterizes a previously unreported storage disease in fetal and neonatal Quarter Horses, with findings similar to those of glycogen storage disease type IV. We speculate that a severe inherited loss of glycogen brancher enzyme activity may be responsible for these findings. " 09/21/2007 - "Glycogen branching enzyme deficiency (glycogen storage disease type IV, GSD-IV) is a rare autosomal recessive disorder of the glycogen synthesis with high mortality. "
2.	chitotriosidaseIBA 01/01/2014 - "A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV." 01/01/2004 - "Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection." 01/01/2013 - "Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage disease type IV. The aim of the present study was to evaluate plasma chitotriosidase activity in 19 children with glycogen storage disease type I. Plasma chitotriosidase levels were found to be significantly higher in children with GSD type I than healthy age-matched controls (21.3 ± 16.4 vs. 12.3 ± 8.9 nmol/h/mL, p=0.04). "
3.	Neuraminidase deficiency with beta-galactosidase deficiencyIBA 01/01/2013 - "Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage disease type IV. The aim of the present study was to evaluate plasma chitotriosidase activity in 19 children with glycogen storage disease type I. Plasma chitotriosidase levels were found to be significantly higher in children with GSD type I than healthy age-matched controls (21.3 ± 16.4 vs. 12.3 ± 8.9 nmol/h/mL, p=0.04). "
4.	1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA 12/01/2015 - "Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). " 02/01/2012 - "Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. " 11/15/2011 - "Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen branching enzyme (GBE). " 02/01/2009 - "A fatal neonatal polysystemic type IV glycogenosis, inherited recessively in affected Quarter Horse foals, is due to a mutation in the glycogen branching enzyme gene (GBE1). " 01/01/2008 - "Glycogenosis type IV is caused by a deficiency of glycogen branching enzyme (alpha-1,4 glucan 6-transglucosylase). "
5.	polyglucosanIBA 01/01/2014 - "The neuromuscular presentation of glycogen branching enzyme deficiency includes a severe infantile form and a late-onset variant known as adult polyglucosan body disease. " 10/01/2013 - "The role of polyglucosan storage in muscle and in both central and peripheral nervous systems has been confirmed in the infantile and late-onset forms of glycogenosis type IV (brancher enzyme deficiency). " 06/01/2012 - "We report a female infant with classic hepatic form of glycogen storage disease type IV who demonstrated diffuse reticuloendothelial system involvement with the spleen, bone marrow, and lymph nodes infiltrated by foamy histiocytes with intracytoplasmic polyglucosan deposits. " 05/01/2011 - "In the present report, we describe a case of the rare, adulthood form of glycogen branching enzyme deficiency, adult polyglucosan body disease (APBD), in which abnormal serum liver tests prompted a liver biopsy. " 11/01/2008 - "A diagnosis of GSD-IV was established in three premature, floppy infants based on characteristic, however unusually pleomorphic polyglucosan bodies at the electron microscopic level, glycogen branching enzyme deficiency in two cases, and the identification of GBE1 mutations in two cases. "
6.	AmylopectinIBA 08/01/1983 - "Histochemical and ultrastructural characteristics of the storage material resemble the amylopectin polysaccharide deposits seen in childhood Type IV glycogenosis." 11/01/1995 - "Orthotopic liver transplantation has been used to treat glycogen storage disease type IV. Most long-term surviving patients who have undergone liver transplantation have been free of neuromuscular and cardiac morbidity, and regression of cardiac amylopectin infiltration has been reported after liver transplantation. " 11/01/1995 - "We present the case of a child who underwent orthotopic liver transplantation for glycogen storage disease type IV. In contrast to previous reports, at autopsy 2 1/2 years after transplantation, there was massive amylopectin deposits in his heart. " 02/01/2011 - "Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficiency in glycogen-branching enzyme (GBE1) activity that results in the accumulation of amylopectin-like polysaccharide, which presumably leads to osmotic swelling and cell death. " 09/28/2004 - "Glycogen storage disease type IV (GSD-IV) is a clinically heterogeneous autosomal recessive disorder due to glycogen branching enzyme (GBE) deficiency and resulting in the accumulation of an amylopectin-like polysaccharide. "
7.	Fibrinogen (Factor I)FDA Link 09/01/2007 - "Ultrastructural changes in both cases differed from classical Lafora inclusions and ruled out hepatitis B surface antigen, glycogenosis type IV, and fibrinogen storage disease. " 11/01/2006 - "Ground-glass hepatocytes have been described in Lafora's disease, fibrinogen deposition, hepatitis B, type IV glycogenosis, and alcohol aversion (cyanamide) therapy. "
8.	Cyanamide (Calcium Carbimide)IBA 09/01/2006 - "Ground-glass (GG) inclusions within hepatocytes are an important histopathologic marker of chronic hepatitis B virus (HBV) infection but may also be seen in Lafora's disease (myoclonus epilepsy), cyanamide alcohol aversion therapy, and type IV glycogenosis. " 11/01/2006 - "Ground-glass hepatocytes have been described in Lafora's disease, fibrinogen deposition, hepatitis B, type IV glycogenosis, and alcohol aversion (cyanamide) therapy. "
9.	1,4-glucanIBA 08/01/1966 - "Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis." 01/01/2012 - "Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder due to the deficiency of α 1,4-glucan branching enzyme, resulting in an accumulation of amylopectin-like polysaccharide in various systems. "
10.	Nonsense Codon (Nonsense Mutation)IBA 09/01/2006 - "Glycogen Branching Enzyme Deficiency (GBED), a fatal condition recently identified in fetuses and neonatal foals of the Quarter Horse and Paint Horse lineages, is caused by a nonsense mutation in codon 34 of the GBE1 gene, which prevents the synthesis of a functional GBE protein and severely disrupts glycogen metabolism. "

Therapies and Procedures

1.	Liver Transplantation 03/01/2009 - "Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation." 03/01/2002 - "Clinically the classic Andersen disease is a rapidly progressive disorder leading to terminal liver failure unless liver transplantation is performed. " 03/01/1992 - "Orthotopic liver transplantation (OLT) has been proposed to treat patients with type IV glycogenosis because of early progressive cirrhosis. " 03/01/1992 - "Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis." 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.	Transplants (Transplant) 11/01/1994 - "Glycogenosis type IV: liver transplant at 12 years." 03/01/1992 - "We describe a 15-month-old child in whom a liver transplant was performed for type IV glycogenosis. "
3.	Heart Transplantation (Grafting, Heart) 10/01/1999 - "[Glycogenosis type IV as a seldom cause of cardiomyopathy - report about a successful heart transplantation]." 10/01/1999 - "We report about a 17 year old male patient with a cardiomyopathy secondary to type IV glycogenosis (Andersens disease) and class II immunoglobulin deficiency who underwent cardiac transplantation. "
4.	Transplantation (Transplant Recipients) 11/01/1995 - "We present the case of a child who underwent orthotopic liver transplantation for glycogen storage disease type IV. In contrast to previous reports, at autopsy 2 1/2 years after transplantation, there was massive amylopectin deposits in his heart. "