Glycogen Storage Disease (Glycogenosis)

A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.

Also Known As:

Networked: 1052 relevant articles (20 outcomes, 71 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Glycogen Storage Disease Type II (Pompe's Disease)
2.	Glycogen Storage Disease Type V (McArdle's Disease)
3.	Fanconi Syndrome (Syndrome, Fanconi)
4.	Glycogen Storage Disease Type III (Cori's Disease)
5.	Inflammatory Bowel Diseases (Inflammatory Bowel Disease)

Experts

1.	Mansfield, Brian C: 14 articles (05/2015 - 03/2002)
2.	Weinstein, David A: 13 articles (05/2015 - 06/2002)
3.	Chou, Janice Y: 12 articles (05/2015 - 04/2007)
4.	Pan, Chi-Jiunn: 10 articles (11/2009 - 02/2002)
5.	Kishnani, Priya S: 8 articles (08/2014 - 03/2007)
6.	Smit, G Peter A: 8 articles (03/2012 - 02/2002)
7.	Chou, Janice Yang: 8 articles (09/2006 - 02/2002)
8.	Vissing, John: 7 articles (05/2015 - 06/2002)
9.	Labrune, Philippe: 7 articles (05/2013 - 10/2002)
10.	Chou, J Y: 7 articles (02/2007 - 01/2000)

Drugs and Biologics

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

1.	Glucose (Dextrose)FDA LinkGeneric 06/29/2007 - "Specific reduction of hepatic glucose 6-phosphate transporter-1 ameliorates diabetes while avoiding complications of glycogen storage disease." 09/01/1989 - "Glucose recycling and production in glycogenosis type I and III: stable isotope technique study." 05/01/1988 - "This study measures hexose monophosphate (HMP) shunt activity, glycolytic rate, and glucose transport in PMN and lymphocytes of patients with glycogen storage disease (GSD) type Ib as compared with controls and with GSD Ia patients. " 01/01/2014 - "Glycogen storage disease type 1b: an early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient." 01/01/2012 - "Our model may serve as an important module of a whole-body model of human glucose metabolism and as a valuable tool for understanding the role of the liver in glucose homeostasis under normal conditions and in diseases like diabetes or glycogen storage diseases."
2.	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 08/01/2001 - "This study evaluated MR imaging of bone marrow in glycogen storage disease type IB with and without granulocyte colony-stimulating factor. " 01/01/2014 - "Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b." 04/01/2005 - "Amelioration of neutrophil membrane function underlies granulocyte-colony stimulating factor action in glycogen storage disease 1b." 10/01/2002 - "Granulocyte colony-stimulating factor in glycogen storage disease type 1b. " 02/01/2002 - "Neutrophil adherence receptor deficiency regressing with granulocyte-colony stimulating factor therapy in a case of glycogen storage disease type Ib."
3.	Starch (Cornstarch)IBA 05/01/1988 - "The RTA significantly improved in response to cornstarch therapy, implying a direct causal relationship between subtle metabolic derangements in glycogen storage disease, type 9, and proximal RTA." 10/01/1990 - "Efficacy of cornstarch therapy in type III glycogen-storage disease." 09/01/1990 - "This study was undertaken to test the glycemic response of five infants with glycogen storage disease type 1, aged 0.7 to 1.5 years, to uncooked cornstarch under various dietary conditions, and to evaluate the long-term effects of a dietary regimen consisting of uncooked cornstarch in milk every 4 hours, in addition to three meals daily, on biochemical values and physical growth. " 11/01/2008 - "Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib." 06/01/2007 - "To determine whether a new starch offers better short-term metabolic control than uncooked cornstarch in patients with glycogen storage diseases (GSDs). "
4.	Glucose-6-Phosphatase (Glucose 6 Phosphatase)IBA 09/01/1990 - "Recent studies of the type 1 glycogen storage diseases, which are human genetic deficiencies that result in impaired glucose-6-phosphatase activity, have greatly increased our understanding of glucose-6-phosphatase. " 01/01/1980 - "Clinical and enzymological studies in a child with type I glycogen storage disease associated with partial deficiency of hepatic glucose-6-phosphatase." 04/01/2015 - "Glycogen storage disease (GSD) type Ia is caused by a deficiency in glucose-6-phosphatase. " 12/10/2012 - "A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia." 11/01/2012 - "To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa. "
5.	Lactic AcidFDA LinkGeneric 07/01/2000 - "Urinary lactate excretion to monitor the efficacy of treatment of type I glycogen storage disease." 07/01/2000 - "The purpose of this study was to investigate the usefulness of urinary lactate measurements to assess the adequacy of dietary treatment in patients with type I glycogen storage disease (GSD-I). " 05/01/2009 - "Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease." 01/01/2005 - "High lactate concentrations occur in type I glycogen storage disease (GSD) whenever glycogenolysis occurs. " 01/01/2005 - "Clinical evaluation of a portable lactate meter in type I glycogen storage disease."
6.	Proteins (Proteins, Gene)IBA 12/01/2011 - "Deficiency of these proteins leads to glycogen storage diseases. " 01/01/2015 - "Particular attention was paid to interstitial lung diseases, occurring mainly in newborns and children during the first two years of life, such as congenital deficiencies of surfactant proteins, neuroendocrine cell hyperplasia of infancy, pulmonary interstitial glycogenosis. " 09/01/1990 - "Recent studies of the type 1 glycogen storage diseases have led to a much greater understanding of the role and regulation of each of the glucose-6-phosphatase proteins." 02/01/2004 - "Of the four proteins/genes assigned to date to this family, only one is well known, the SLC37A4 gene (also known as the glucose-6-phosphate transporter 1, G6PT1) mutated in the glycogen storage disease non-1A type. " 06/01/1998 - "To understand the clinical complexity of the glycogen storage diseases, it is necessary to understand the properties and regulation of the proteins involved in glycogen metabolism. "
7.	DNA (Deoxyribonucleic Acid)IBA 02/01/1998 - "DNA analysis is helpful for confirmation of the diagnosis, as well as establishment of the genotype and phenotype correlation in glycogen storage disease type 1a." 03/01/1999 - "Type 2 glycogenosis may be diagnosed before birth through enzymatic study of a material collected through an amniocentesis or a biopsy on chorionic villi, and through DNA analysis. " 01/01/2007 - "The glycogen storage diseases are a category of such disorders that are typed by enzyme analysis, but deoxyribonucleic acid (DNA) based carrier tests are needed for definitive, noninvasive diagnosis and to prevent at-risk matings. " 11/01/2001 - "The double Drd I/PshA I mismatch amplification procedure using hair root samples as the source of DNA is a robust method for genotyping Shorthorns for generalised glycogenosis." 11/01/2009 - "DNA from 31 cell lines, representing many of the common alleles for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia type C, Bloom syndrome, Gaucher disease, and glycogen storage disease, was prepared by the Repository and tested in six clinical laboratories using three different PCR-based assay platforms. "
8.	Growth Hormone (Somatotropin)IBA 08/01/2003 - "Improved growth with growth hormone therapy in a child with glycogen storage disease Ib." 01/01/2008 - "This is a potential cause of growth failure associated with a lower somatotroph mass, and may explain the variable responsiveness to growth hormone replacement therapy in people with glycogen storage disease." 04/01/1986 - "The association of growth hormone and amylo-1-6-glucosidase deficiencies is unusual and difficult to treat; however growth hormone deficiency should be considered in patients with hepatic glycogenoses and severe growth retardation." 08/01/1997 - "On the basis of the currently used diagnostic criteria, 13 children had hyperinsulinism, 16 had ketotic hypoglycemia or no disorder, 3 had hypopituitarism or isolated growth hormone deficiency, 2 had glycogen storage disease type 1 and 2 had fatty acid oxidation disorders. " 04/01/2010 - "To investigate the growth hormone (GH)-insulin-like growth factor (IGF) system in patients with glycogen storage disease type 1 (GSD1). "
9.	AmylopectinIBA 05/01/1988 - "The muscle biopsy showed a glycogenosis with deposits of amylopectin-like material. " 11/01/1995 - "Failure of liver transplantation to diminish cardiac deposits of amylopectin and leukocyte inclusions in type IV glycogen storage disease." 03/18/1993 - "Histopathological examination revealed that the cardiac deposits of amylopectin in the patients with glycogen storage disease and the lymph-node deposits of glucocerebroside in the patient with Gaucher's disease were dramatically reduced after transplantation. " 03/18/1993 - "Liver transplantation for type IV glycogen storage disease (branching-enzyme deficiency) results in the resorption of extrahepatic deposits of amylopectin, but the mechanism of resorption is not known. "
10.	AntibodiesIBA 07/01/2010 - "Antibodies to CBir1 are associated with glycogen storage disease type Ib." 09/01/1990 - "Purified glucose-6-phosphatase proteins, immunospecific antibodies, and improved assay techniques have led to the diagnosis of a variety of new type 1 glycogen storage diseases. "

Therapies and Procedures

1.	Liver Transplantation 04/01/2004 - "Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation." 11/01/1995 - "Orthotopic liver transplantation for type IV glycogen storage disease may not, in all cases, result in improvement in other affected organs. " 05/01/2012 - "Outcomes of liver transplantation for glycogen storage disease: a matched-control study and a review of literature." 01/01/2013 - "[Immediate and long-term results of partial related liver transplantation by glycogenosis type I: the first Russian experience]." 08/01/2012 - "Glycemic management in living donor liver transplantation for patients with glycogen storage disease type 1b."
2.	Enzyme Therapy 09/01/1988 - "Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells." 10/01/2002 - "At the SHS symposium on Glycogen Storage Diseases Type I and II, in Fulda, two interim accounts were given of studies on the efficacy of enzyme therapy for Pompe disease; one with recombinant human acid AGLU produced in Chinese hamster ovary cells and the other with the same enzyme produced in the milk of transgenic rabbits. " 03/01/2004 - "It also discusses recent topics of therapeutic trial for glycogen storage diseases, featuring recombinant human acid alpha-glucosidase GAA enzyme therapy for fatal glycogen storage disease type II."
3.	Transplantation (Transplant Recipients) 01/01/2007 - "Hepatocyte transplantation for glycogen storage disease type Ib." 01/26/2002 - "Hepatocyte transplantation was done in a 47-year-old woman who had glycogen storage disease type 1a and severe fasting hypoglycaemia. " 01/26/2002 - "Hepatocyte transplantation as a treatment for glycogen storage disease type 1a." 01/26/2002 - "Our results show that hepatocyte transplantation might be an alternative to liver transplantation in glycogen storage disease type 1a." 05/01/2008 - "For glycogen storage diseases, studies on the natural history and hepatocellular transformation necessitate tumor surveillance and possible early transplantation. "
4.	Enzyme Replacement Therapy 09/01/2004 - "Early diagnosis and treatment of glycogen storage disease II are considered to be critical for maximum efficacy of the enzyme replacement therapies that are in development. " 05/01/2012 - "Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years." 07/01/2009 - "We discuss quantitative MRI findings after a 6-month course of enzyme replacement therapy administered to nine patients with adult-onset glycogenosis II." 07/01/2009 - "Enzyme replacement therapy in adult-onset glycogenosis II: is quantitative muscle MRI helpful?" 10/01/2013 - "Important recent developments in the field of muscle glycogenoses include a new disease entity, a new animal model of McArdle disease, and better knowledge of the pathogenesis in some glycogenoses and of the long-term effects of enzyme replacement therapy in Pompe disease."
5.	Ketogenic Diet 08/01/2005 - "Treatment of glycogenosis type V with ketogenic diet." 11/01/2008 - "Initial studies indicate that the ketogenic diet appears effective in other metabolic conditions, including phosphofructokinase deficiency and glycogenosis type V (McArdle disease). "