glycogen storage disease type iv

Summary

Summary: 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.

Top Publications

  1. pmc Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation
    Hye Ryun Ban
    Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
    Gut Liver 3:60-3. 2009
  2. pmc A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats
    John C Fyfe
    Laboratory of Comparative Medical Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA
    Mol Genet Metab 90:383-92. 2007
  3. pmc Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene
    Y Bao
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Clin Invest 97:941-8. 1996
  4. ncbi The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies
    Shimon W Moses
    Department of Pediatrics, Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
    Curr Mol Med 2:177-88. 2002
  5. ncbi Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis
    A E Konstantinidou
    Histopathology 48:878-80. 2006
  6. ncbi Fatal infantile neuromuscular presentation of glycogen storage disease type IV
    Stacey K H Tay
    Department of Neurology, College of Physicians and Surgeons, Columbia University, 4 420, 630 West 168th Street, New York, NY 10032, USA
    Neuromuscul Disord 14:253-60. 2004
  7. ncbi Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
    C Bruno
    Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Largo G Gaslini 5, I 16147 Genova, Italy
    Neurology 63:1053-8. 2004
  8. ncbi Glycogen storage disease type IV presenting as hydrops fetalis
    A Alegria
    Maternidade Júlio Dinis, Porto, Portugal
    J Inherit Metab Dis 22:330-2. 1999
  9. ncbi Primary periodic paralyses
    J Finsterer
    Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Acta Neurol Scand 117:145-58. 2008
  10. ncbi Diversity of neuromuscular pathology in lethal multiple pterygium syndrome
    Phillip M Cox
    Department of Histopathology, Birmingham Women s Hospital, Metchley Park Road, Birmingham B15 2TG, UK
    Pediatr Dev Pathol 6:59-68. 2003

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Publications84

  1. pmc Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation
    Hye Ryun Ban
    Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
    Gut Liver 3:60-3. 2009
    b>Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and ..
  2. pmc A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats
    John C Fyfe
    Laboratory of Comparative Medical Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA
    Mol Genet Metab 90:383-92. 2007
    Deficiency of glycogen branching enzyme (GBE) activity causes glycogen storage disease type IV (GSD IV), an autosomal recessive error of metabolism...
  3. pmc Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene
    Y Bao
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Clin Invest 97:941-8. 1996
    b>Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branching enzyme (GBE) activity...
  4. ncbi The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies
    Shimon W Moses
    Department of Pediatrics, Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
    Curr Mol Med 2:177-88. 2002
    b>Glycogen storage disease type IV (GSD-IV), also known as Andersen disease or amylopectinosis (MIM 23250), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme (GBE) leading to the accumulation of ..
  5. ncbi Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis
    A E Konstantinidou
    Histopathology 48:878-80. 2006
  6. ncbi Fatal infantile neuromuscular presentation of glycogen storage disease type IV
    Stacey K H Tay
    Department of Neurology, College of Physicians and Surgeons, Columbia University, 4 420, 630 West 168th Street, New York, NY 10032, USA
    Neuromuscul Disord 14:253-60. 2004
    b>Glycogen storage disease type IV or Andersen disease is an autosomal recessive disorder due to deficiency of glycogen branching enzyme...
  7. ncbi Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
    C Bruno
    Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Largo G Gaslini 5, I 16147 Genova, Italy
    Neurology 63:1053-8. 2004
    b>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...
  8. ncbi Glycogen storage disease type IV presenting as hydrops fetalis
    A Alegria
    Maternidade Júlio Dinis, Porto, Portugal
    J Inherit Metab Dis 22:330-2. 1999
  9. ncbi Primary periodic paralyses
    J Finsterer
    Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Acta Neurol Scand 117:145-58. 2008
    ..To review the current knowledge about primary periodic paralyses (PPs)...
  10. ncbi Diversity of neuromuscular pathology in lethal multiple pterygium syndrome
    Phillip M Cox
    Department of Histopathology, Birmingham Women s Hospital, Metchley Park Road, Birmingham B15 2TG, UK
    Pediatr Dev Pathol 6:59-68. 2003
    ..One case was later shown to be due to glycogen storage disease type IV. The skeletal muscle bulk was reduced in all fetuses and the remaining muscle showed a range of ..
  11. ncbi Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations
    Carla Fernandez
    Laboratoire d Anatomie Pathologique et Neuropathologie, Hopital de la Timone Adultes, 264 rue Saint Pierre, 13385 Marseille Cedex 05, France
    Muscle Nerve 41:269-71. 2010
    We report a recent case of the severe congenital variant of glycogen storage disease type IV with prolonged survival. The patient was found to be a compound heterozygote for two novel mutations, a missense mutation in exon 5 (p.H188P, c...
  12. doi Coexistent manifestations of the Andersen-Tawil and Brugada syndromes
    Adrian H Shandling
    Memorial Heart and Vascular Institute and Department of Pharmacy Services, Long Beach Memorial Medical Center, University of California, Irvine, CA, USA
    J Electrocardiol 41:102-6. 2008
  13. ncbi [Anderson disease/chylomicron retention disease]
    Ayako Miyahara
    Seirei Numazu Hospital
    Nihon Rinsho 65:597-9. 2007
  14. pmc Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum
    Tolga Aksu
    Department of Cardiology, Kocaeli Derince Education and Research Hospital, 41900 Kocaeli, Turkey Department of Cardiology, Ankara Yuksek Ihtisas Education and Research Hospital, Sihhiye, 06410 Ankara, Turkey
    Case Report Med 2012:764286. 2012
    b>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...
  15. ncbi Neonatal presentation of lethal neuromuscular glycogen storage disease type IV
    L F Escobar
    Medical Genetics and Neurodevelopmental Pediatric Center Peyton Manning Children Hospital, Indianapolis, IN 46260, USA
    J Perinatol 32:810-3. 2012
    ..We review recent information on early presentation of GSD IV with particular interest in the presentation of the neonatal lethal neuromuscular form of this rare disorder...
  16. ncbi Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation
    Sing Chung Li
    School of Nutrition and Health Science, Taipei Medical University, Taipei, Taiwan
    J Child Neurol 27:204-8. 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...
  17. ncbi Myophosphorylase deficiency (glycogenosis type V; McArdle disease)
    S Dimaur
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Curr Mol Med 2:189-96. 2002
    ..Mutations are spread throughout the gene and there is no clear genotype:phenotype correlation. High-protein diet and aerobic exercise are beneficial, and gene therapy appears promising...
  18. ncbi Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses
    T L Ward
    Department of Veterinary Pathobiology, University of Minnesota, St Paul, MN 55108, USA
    Cytogenet Genome Res 102:201-6. 2003
    ..GBE) is responsible for a fatal neonatal disease in Quarter Horse foals that closely resembles human glycogen storage disease type IV (GSD IV)...
  19. ncbi Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder
    Sing Chung Li
    School of Nutrition and Health Science, Taipei Medical University, Taipei, Taiwan
    J Inherit Metab Dis 33:S83-90. 2010
    b>Glycogen storage disease type IV (GSD IV; Andersen disease) is caused by a deficiency of glycogen branching enzyme (GBE), leading to excessive deposition of structurally abnormal, amylopectin-like glycogen in affected tissues...
  20. ncbi Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases
    Wim Sluiter
    Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Clin Chem 58:1139-47. 2012
    ..We developed an ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) assay to detect Glc₄ in urine without interference of the Glc₄ isomer maltotetraose (M₄)...
  21. ncbi Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene
    C Lamperti
    Fondazione Ospedale Maggiore Policlinico, Maniagalli and Regina Elena, IRCCS, Milan, Italy
    J Inherit Metab Dis 32:S161-8. 2009
    b>Glycogen storage disease type IV (GSD IV, or Andersen disease) is an autosomal recessive disorder due to the deficiency of 1,4-alpha-glucan branching enzyme (or glycogen branching enzyme, GBE1), resulting in an accumulation of amylopectin-..
  22. pmc Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
    Bertrand Boisson
    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York, USA
    Nat Immunol 13:1178-86. 2012
    ..These data suggest that LUBAC regulates NF-κB-dependent IL-1β responses differently in different cell types...
  23. ncbi [Natural history of hepatic glycogen storage diseases]
    Philippe Labrune
    Service de Pediatrie, Centre de référence des maladies héréditaires du métabolisme hépatique, AP HP, Hopital Antoine Beclere, F 92141 Clamart Cedex, France
    Presse Med 37:1172-7. 2008
    ..It is important to know the natural history and long-term outcome of these patients to improve their treatment during childhood. To reach this goal, collaboration between pediatric specialists and those who treat adults is essential...
  24. ncbi A case of congenital glycogen storage disease type IV with a novel GBE1 mutation
    G Praveen Raju
    Department of Neurology, Children s Hospital Boston and Harvard Medical School, 300 Longwood Avenue, Boston, MA, USA
    J Child Neurol 23:349-52. 2008
    b>Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs...
  25. ncbi Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene
    Roberto Massa
    Dipartimento di Neuroscienze, Università di Roma Tor Vergata and Fondazione Santa Lucia, Roma, Italy
    Muscle Nerve 37:530-6. 2008
    ....
  26. pmc Neuromuscular forms of glycogen branching enzyme deficiency
    C Bruno
    Muscular and Neurodegenerative Disease Unit, University of Genova, Istituto Giannina Gaslini, Genova, Italy
    Acta Myol 26:75-8. 2007
    Deficiency of glycogen branching enzyme is causative of Glycogen Storage Disease type IV (GSD-IV), a rare autosomal recessive disorder of the glycogen synthesis, characterized by the accumulation of amylopectin-like polysaccharide, also ..
  27. ncbi Congenital form of glycogen storage disease type IV: a case report and a review of the literature
    Keinchi Maruyama
    Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine, Hamamatsu, Japan
    Pediatr Int 46:474-7. 2004
  28. ncbi High frequency of missense mutations in glycogen storage disease type VI
    N J Beauchamp
    Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children s NHS Trust, Western Bank, Sheffield, S10 2TH, UK
    J Inherit Metab Dis 30:722-34. 2007
    ..We conclude that deficiency of liver glycogen phosphorylase is predominantly the result of missense mutations affecting enzyme activity. There are no common mutations and the severity of clinical symptoms varies significantly...
  29. ncbi Null mutations and lethal congenital form of glycogen storage disease type IV
    Stefania Assereto
    Muscular and Neurodegenerative Disease Unit, Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Largo G Gaslini 5, I 16147 Genova, Italy
    Biochem Biophys Res Commun 361:445-50. 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...
  30. ncbi Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora
    P Gomez-Garre
    Laboratorio y Servicio de Neurología, Fundacion Jimenez Diaz, Madrid, Spain
    Neurology 68:1369-73. 2007
    ..b>Glycogen storage disease type IV (GSD-IV; Andersen disease) is an autosomal recessive disorder characterized by cirrhosis leading to ..
  31. ncbi [Polyglycosan body myopathy]
    M Jeub
    Neurologische Klinik und Poliklinik, Rheinische Friedrich Wilhelms Universitat, Sigmund Freud Strasse 25, 53105 Bonn, Germany
    Nervenarzt 77:1487-91. 2006
    ..We report two patients with polyglycosan body disease manifesting in adulthood. Clinical, electrophysiological, and histopathological characteristics of their disorders are summarized, and diagnostic classification is discussed...
  32. ncbi Allele frequency and likely impact of the glycogen branching enzyme deficiency gene in Quarter Horse and Paint Horse populations
    M L Wagner
    Department of Veterinary Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, St Paul 55108, USA
    J Vet Intern Med 20:1207-11. 2006
    ....
  33. ncbi Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity
    T F Eminoglu
    Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Besevler, Ankara, 06510, Turkey
    J Inherit Metab Dis 31:S255-9. 2008
    ..We suggest that this is an as yet undefined and different phenotype of glycogen storage disease associated with multisystemic involvement...
  34. pmc Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV
    H Orhan Akman
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 20:4430-9. 2011
    b>Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen branching enzyme (GBE)...
  35. ncbi Favorable outcome of primary liver transplantation in children with cirrhosis and hepatocellular carcinoma
    Fabrizio Romano
    Department of Surgical Science, S Gerardo Hospital, Milan, Italy
    Pediatr Transplant 15:573-9. 2011
    ..atresia (3), BSEP deficiency (3), tyrosinemia type 1 (2), complications of choledocal cyst and glycogen storage disease type IV (1 each). At HCC discovery, median AFP was 2322 ng/mL (3-35,000), high or rising in 9/10 patients...
  36. ncbi Glycogen storage disease type Ia and VI associated with hepatocellular carcinoma: two case reports
    T M Manzia
    U O C Chirurgia dei Trapianti, Fondazione PTV, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy
    Transplant Proc 43:1181-3. 2011
    ..While the association of HCC with GSD type Ia is well known, this is the first case of HCC in GSD type VI so far reported to the best of our knowledge...
  37. ncbi Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions
    Cristina H Hajdu
    Department of Pathology, New York University Langone Medical Center, New York, New York 10016, USA
    Semin Liver Dis 31:223-9. 2011
    ..The differential diagnosis of ground-glass hepatocytes and the genetic basis of APBD are discussed...
  38. ncbi Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV
    Yi Ching Lee
    Institute of Biomedical Sciences, Academia Sinica, Taipei 11529, Taiwan
    Hum Mol Genet 20:455-65. 2011
    b>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 ..
  39. ncbi Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies
    A L Taratuto
    Department of Neuropathology, Institute for Neurological Research, FLENI, Buenos Aires, Argentina
    Neuromuscul Disord 20:783-90. 2010
    The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching enzyme, is a rare but probably underdiagnosed cause of ..
  40. ncbi [Glycogenosis type IV (Andersen disease). Clinical data, pathology, and genetics in a fatal perinatal case]
    D Rothacker
    Gemeinschaftspraxis für Pathologie, Ellerried 7, 19061, Schwerin, Deutschland
    Pathologe 31:293-6. 2010
    ..The differential diagnosis should include Lafora disease as well as polyglucosan body disease. Since there is no effective therapy for glycogenosis type IV to date, prenatal diagnosis is mandatory...
  41. ncbi [The clinical and pathological characteristics of a patient with glycogen storage disease IV]
    Sheng Yao
    Department of Neurology, Navy General Hospital, Beijing 100037, China
    Zhonghua Nei Ke Za Zhi 48:380-2. 2009
    ..To report the clinical and pathological characteristics of one patient with glycogen storage disease IV (Anderson disease)...
  42. ncbi Considering complementary and alternative medicine alternatives in cases of life-threatening illness: applying the best-interests test
    Joan Gilmour
    Osgoode Hall Law School, York University, Toronto, Ontario, Canada
    Pediatrics 128:S175-80. 2011
    ....
  43. ncbi Immunohistochemical and ultrastructural changes in the brain in probable adult glycogenosis type IV: adult polyglucosan body disease
    Teresa Wierzba-Bobrowicz
    Department of Neuropathology, Institute of Psychiatry and Neurology, 9 Sobieskiego, 02 957 Warsaw, Poland
    Folia Neuropathol 46:165-75. 2008
    ..APBD patients develop upper and lower neuron disease and dementia, probably secondary to the disruption of neuron and astrocyte functions...
  44. ncbi Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene
    Kay W Nolte
    Department of Neuropathology, RWTH Aachen University Hospital, Pauwelsstr 30, 52074, Aachen, Germany
    Acta Neuropathol 116:491-506. 2008
    ....
  45. ncbi Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses
    Robert C Tryon
    Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA 95616, USA
    J Am Vet Med Assoc 234:120-5. 2009
    ....
  46. pmc Unclassified polysaccharidosis of the heart and skeletal muscle in siblings
    Benedikt Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
    Mol Genet Metab 95:52-8. 2008
    ..Up to now unidentified glycogen synthesis or glycogen degradation pathways are supposed to contribute to this idiopathic glycogen storage disease...
  47. ncbi Glycogen storage disease: clinical, biochemical, and molecular heterogeneity
    Yoon S Shin
    University Childrens Hospital and Molecular Genetics and Metabolism Laboratory, Munich, Germany
    Semin Pediatr Neurol 13:115-20. 2006
    ..GSD type VII, phosphofructokinase deficiency, has 2 subtypes. GSD types VIa, VIII, IX, or X are supposedly caused by tissue-specific phosphorylase kinase deficiency. GSD type 0, glycogen synthase deficiency, is divided into 2 subtypes...
  48. ncbi Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion
    Philipp S Lange
    Department of Internal Medicine III, University of Cologne, Joseph Stelzmann Strasse 9, 50924 Cologne, Germany
    Cardiovasc Res 59:321-7. 2003
    ..1, have been identified in affected individuals. However, the functional effects of these mutations have not yet been fully elucidated...
  49. ncbi Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders
    Bethan Jones
    Genomic and Molecular Medicine Group, MRC Clinical Sciences Centre, Imperial College, London, England, UK
    Nat Genet 34:29-31. 2003
    ..Our data suggest that chylomicrons, which vastly exceed the size of typical COPII vesicles, are selectively recruited by the COPII machinery for transport through the secretory pathways of the cell...
  50. ncbi Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome
    Yukio Hosaka
    Division of Cardiology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi 1 754, Niigata 951 8510, Japan
    J Mol Cell Cardiol 35:409-15. 2003
    ..In conclusion, the G215D mutant of KCNJ2 is distributed normally in the plasma membrane, but exhibits a dominant-negative effect and reduces the Kir2.1 current, presumably due to hetero-multimer construction...
  51. ncbi Glycogen storage diseases
    Joseph I Wolfsdorf
    Diabetes Program, Division of Endocrinology, Charles A Janeway Medical Firm, Children s Hospital Boston, Boston 02115, MA, USA
    Rev Endocr Metab Disord 4:95-102. 2003
  52. ncbi [Andersen syndrome, ventricular arrhythmias and channelopathy (a case report)]
    V Lucet
    Unité de rythmologie pédiatrique, Château des Côtes, 78350 Les Loges en Josas, France
    Arch Pediatr 9:1256-9. 2002
    ..Recent advances in molecular genetic research have provided new insights into severe ventricular arrhythmias related to channelopathies...
  53. ncbi An expanding view for the molecular basis of familial periodic paralysis
    Stephen C Cannon
    Department of Neurology, Massachusetts General Hospital Wellman 423, 50 Blossom Street, Boston, MA 02114, USA
    Neuromuscul Disord 12:533-43. 2002
    ..This review focuses on the clinical features, molecular genetic defects, and pathophysiologic mechanisms that underlie familial periodic paralysis...
  54. ncbi Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies
    Coeli M B Lopes
    Department of Physiology and Biophysics, Mount Sinai School of Medicine, New York University, New York, NY 10029, USA
    Neuron 34:933-44. 2002
    ..We find basic residues that interact with PIP(2), two of which have been associated with Andersen's and Bartter's syndromes. We show that several naturally occurring mutants decrease channel-PIP(2) interactions, leading to disease...
  55. ncbi Type IV glycogen storage disease
    Sunati Sahoo
    Department of Pathology, The University of Chicago Hospital, Chicago, IL 60637, USA
    Arch Pathol Lab Med 126:630-1. 2002
  56. ncbi Surprises of genetic engineering: a possible model of polyglucosan body disease
    N Raben
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Neurology 56:1739-45. 2001
    ..In an attempt to accelerate the course of the disease in the knockouts, the authors increased the level of cytoplasmic glycogen by overexpressing glycogen synthase (GSase) or GlutI glucose transporter...
  57. ncbi A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy
    C Bruno
    H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons, New York 10032, USA
    Neuromuscul Disord 9:403-7. 1999
    ..This case broadens the spectrum of mutations in patients with GSD IV and confirms the clinical and molecular heterogeneity of this disease...
  58. ncbi Glycogen storage disease type IV: a case report
    Y J Chan
    Department of Pathology, Mackay Memorial Hospital, Taipei, Taiwan, ROC
    Zhonghua Yi Xue Za Zhi (Taipei) 62:743-7. 1999
    b>Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by a deficiency of glycogen branching enzyme (GBE) activity. This results in the accumulation of abnormal glycogen in the liver and other organs...
  59. ncbi Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis
    P M Cox
    Division of Investigative Science, Imperial College School of Medicine, London, United Kingdom
    Am J Med Genet 86:187-93. 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...
  60. ncbi Amylopectinosis in fetal and neonatal Quarter Horses
    J A Render
    Veterinary Medical Center, College of Veterinary Medicine, Michigan State University, East Lansing 48824, USA
    Vet Pathol 36:157-60. 1999
    ..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 ..
  61. ncbi Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene
    A Lossos
    Department of Neurology, Hebrew University Hadassah Medical School and Hadassah University Hospital, Jerusalem, Israel
    Ann Neurol 44:867-72. 1998
    ..Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that, in contrast to APBD, is an early childhood disorder with primarily systemic ..
  62. ncbi Nutrition therapy for hepatic glycogen storage diseases
    T Goldberg
    Division of Pediatric Endocrinology and Metabolism, North Shore University Hospital Cornell University Medical College, Manhasset, NY 11030
    J Am Diet Assoc 93:1423-30. 1993
    ..Patients with GSD IV, VI, and IX have benefited from high-protein diets similar to that recommended for patients with GSD III...
  63. ncbi Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis
    T T Tang
    Department of Pathology, Children s Hospital of Wisconsin, Milwaukee
    Acta Neuropathol 87:531-6. 1994
    ..The combined involvement of the muscles and motor neurones could account for the severity of hypotonia. The muscle biopsy, electromyogram and biochemical and enzyme assays were helpful in establishing the diagnosis...
  64. ncbi A neonatal form of glycogen storage disease type IV
    M Nambu
    Department of Pediatrics, Tenri Hospital, Nara, Japan
    Neurology 61:392-4. 2003
    We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies...
  65. ncbi The genes and proteins of atherogenic lipoprotein production
    C C Shoulders
    Medical Research Council Clinical Sciences Centre, Hammersmith Hospital, Du Cane Rd, London W12 0NN, UK
    Biochem Soc Trans 32:70-4. 2004
    ..Here we report molecular events that co-ordinate whole-body lipid homoeostasis from insects to humans, viewed in the context of rare and common genetic disorders of apolipoprotein B-containing lipoprotein production...
  66. ncbi Prenatal diagnosis of glycogen storage disease type IV
    H Orhan Akman
    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
    Prenat Diagn 26:951-5. 2006
    b>Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disorder due to mutations in the GBE1 gene causing deficiency of the glycogen branching enzyme (GBE)...
  67. ncbi Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family
    A L'hermine-Coulomb
    Service d Anatomie Pathologique, Hopital Antoine Beclere, Clamart, France
    Am J Med Genet A 139:118-22. 2005
    ..Genetic analysis of the GBE gene may help to shed some light on the puzzling diversity of GSD IV phenotypes...
  68. ncbi [Surgical treatment for the patient with atrial septal defect and Andersen syndrome]
    Y Seike
    Department of Cardiovascular Surgery, Ehime Prefectural Central Hospital, Matsuyama, Japan
    Kyobu Geka 58:993-6. 2005
    ..We successfully performed cardiac operation for this rare associated malformation...
  69. ncbi Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence
    B B Das
    Section of Pediatric Cardiology, Department of Pediatrics, The Children s Hospital, University of Colorado School of Medicine, Denver, CO, USA
    Pediatr Transplant 9:261-5. 2005
    ..We believe that this is an as yet uncharacterized and novel phenotype of GSD associated with cardiomyopathy, in which there is an imbalance in the regulation of glycogen metabolism limited to the heart...
  70. ncbi [Clinical and biochemical correlations in certain metabolic myopathies]
    T de Barsy
    Laboratoire de Chimie Physiologique, Universite Catholique de Louvain, Bruxelles
    Bull Mem Acad R Med Belg 147:385-92; discussion 392-3. 1992
    ..A short review of the various diseases with their particular features is reported...
  71. ncbi Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings
    B Giuffre
    Dipartimento di Neonatologia, Istituti Clinici di Perfezionamento, Milan, Italy
    J Inherit Metab Dis 27:609-19. 2004
    ..In our experience, the correct interpretation of the histological findings was essential in the search for the diagnosis...
  72. ncbi Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1
    Andreas R Janecke
    Department of Medical Biology and Human Genetics, Innsbruck Medical University, Austria
    J Pediatr 145:705-9. 2004
    ..We report two novel truncating mutations, as well as the first genomic mutational analysis of GBE1 using denaturing high performance liquid chromatography...
  73. ncbi [Andersen syndrome: a particular form of paralysis with cardiac dysrhythmia]
    J Pouget
    Service de Neurologie et Maladies Neuromusculaires, Hopital de la Timone, 264 rue Saint Pierre, 13005 Marseille, France
    Rev Neurol (Paris) 160:S38-42. 2004
    ..1 which plays an important role in maintaining membrane potential and during the terminal phase of cardiac action potential repolarization. Several studies showed a dominant negative effect of the mutation on Kir 2.1 channel function...
  74. ncbi The intracellular transport of chylomicrons requires the small GTPase, Sar1b
    Carol C Shoulders
    Medical Research Council Clinical Sciences Centre, Hammersmith Hospital, London, UK
    Curr Opin Lipidol 15:191-7. 2004
    ..This review focuses on the assembly and structural evolution of COPII (coat protein) transport carriers that are essential for the transport of chylomicrons from the endoplasmic reticulum to the Golgi apparatus...
  75. ncbi Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome
    Andrés Ricardo Pérez Riera
    ABC University Fundação Santo André, Sao Paulo, Brazil
    Ann Noninvasive Electrocardiol 9:175-9. 2004
    ..1, resulting in a loss or suppression of the function of this channel...
  76. ncbi Suppression of bidirectional ventricular tachycardia and unmasking of prolonged QT interval with verapamil in Andersen's syndrome
    Prince J Kannankeril
    Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee 37232 2572, USA
    J Cardiovasc Electrophysiol 15:119. 2004
  77. ncbi Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV
    Tara L Ward
    Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Minnesota, 295 AS VM, 1988 Fitch Ave, St Paul, Minnesota 55108 6009, USA
    Mamm Genome 15:570-7. 2004
    ..Defining the molecular basis of equine GSD IV will allow for accurate DNA testing and the ability to prevent occurrence of this devastating disease affecting American Quarter Horses and related breeds...
  78. ncbi Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease
    D H Brown
    Biochem Biophys Res Commun 111:636-43. 1983
    ....
  79. ncbi Reduction of complex ventricular ectopy and improvement in exercise capacity with flecainide therapy in Andersen-Tawil syndrome
    David J Fox
    Department of Medicine, Division of Cardiology, University of Western Ontario, London, Ontario, Canada
    Europace 10:1006-8. 2008
    ....
  80. ncbi Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease
    F Ziemssen
    Department of Neurology, Ruhr University Bochum, Germany
    Ann Neurol 47:536-40. 2000
    ..This is the first identification of GBE mutations underlying adult polyglucosan body disease in a non-Ashkenazi family, and confirms that adult glycogen storage disease type IV can manifest clinically as adult polyglucosan body disease.
  81. ncbi KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome
    Tohru Takahashi
    Department of Pediatrics, Hirosaki University School of Medicine, Hirosaki 036 8562, Japan
    Pediatr Int 47:220-3. 2005
  82. ncbi The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update
    H Michelakakis
    Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece
    J Inherit Metab Dis 27:705-6. 2004
    ..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.
  83. ncbi Placental involvement in glycogen storage disease type IV
    A E Konstantinidou
    Department of Pathology, Medical Faculty, National Kapodistrian University of Athens, Greece
    Placenta 29:378-81. 2008
    b>Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen branching enzyme (GBE) deficiency and resulting in the storage of abnormal glycogen (polyglucosan)...
  84. ncbi Adult polyglucosan body disease: a case report of a manifesting heterozygote
    Eroboghene E Ubogu
    Neuromuscular Division, Department of Neurology, University Hospitals of Cleveland, Case Western Reserve University School of Medicine, Ohio 44106 5098, USA
    Muscle Nerve 32:675-81. 2005
    ..Mutational heterozygosity in the glycogen brancher enzyme gene has not been previously reported as a cause for this rare disease. A review of the clinical presentation, pathogenesis, etiology, and diagnosis of this disease is presented...

Research Grants3

  1. MOLECULAR PATHOGENESIS OF FELINE SPINAL MUSCULAR ATROPHY
    JOHN FYFE; Fiscal Year: 2002
    ..Initial candidate genes will be those implicated in human SMA, but otherwise a comparative positional-candidate gene approach will be taken. ..
  2. Molecular Mechanism of Polarized Cubilin Expression
    JOHN FYFE; Fiscal Year: 2004
    ..Results of these efforts are expected to open a window onto a new aspect of nutrient absorption and membrane receptor biology. ..
  3. CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASE
    Salvatore DiMauro; Fiscal Year: 2007
    ....