313 results match your criteria Glycogen Storage Disease Type IV

Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency.

Biochimie 2021 Apr 19;186:28-32. Epub 2021 Apr 19.

Nencki Institute of Experimental Biology, Pasteur Street 3, 02-093, Warsaw, Poland.

Glycogen storage disease type IV (GSD IV) is caused by mutations in the glycogen branching enzyme gene (GBE1) that lead to the accumulation of aberrant glycogen in affected tissues, mostly in the liver. To determine whether dysfunctional glycogen metabolism in GSD IV affects other components of cellular bioenergetics, we studied mitochondrial function in heterozygous Gbe1 knockout (Gbe1) mice. Mitochondria isolated from the livers of Gbe1 mice showed elevated respiratory complex I activity and increased reactive oxygen species production, particularly by respiratory chain complex III. Read More

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Liver Transplantation for Glycogen Storage Disease Type IV.

Min Liu Li-Ying Sun

Front Pediatr 2021 19;9:633822. Epub 2021 Feb 19.

Department of Liver Transplantation Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen-branching enzyme (GBE) deficiency, leading to accumulation of amylopectin-like glycogen that may damage affected tissues. The clinical manifestations of GSD IV are heterogeneous; one of which is the classic manifestation of progressive hepatic fibrosis. There is no specific treatment available for GSD IV. Read More

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February 2021

The potential of dietary treatment in patients with glycogen storage disease type IV.

J Inherit Metab Dis 2021 May 21;44(3):693-704. Epub 2020 Dec 21.

Glycogen Storage Disease Program, Connecticut Children's Medical Center, Hartford, Connecticut, USA.

There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV. In light of the success of dietary treatment for the other hepatic forms of GSD, we have initiated this observational study to assess the outcomes of medical diets, which limit the accumulation of glycogen. Read More

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Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency.

Arch Biochem Biophys 2020 11 10;695:108626. Epub 2020 Oct 10.

Nencki Institute of Experimental Biology, Polish Academy of Sciences, Pasteur Street 3, 02-093, Warsaw, Poland.

Glycogen branching enzyme (GBE1) introduces branching points in the glycogen molecule during its synthesis. Pathogenic GBE1 gene mutations lead to glycogen storage disease type IV (GSD IV), which is characterized by excessive intracellular accumulation of abnormal, poorly branched glycogen in affected tissues and organs, mostly in the liver. Using heterozygous Gbe1 knock-out mice (Gbe1), we analyzed the effects of moderate GBE1 deficiency on oxidative stress in the liver. Read More

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November 2020

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.

Ann Clin Transl Neurol 2020 11 9;7(11):2186-2198. Epub 2020 Oct 9.

Genetics and Genome Biology Program, The Hospital for Sick Children, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada.

Objective: Adult polyglucosan body disease (APBD) is an adult-onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched glycogen aggregates called polyglucosan bodies in the nervous system. There are presently no treatments for APBD. Read More

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November 2020

An uncommon cause of early infantile liver disease and raised chitotriosidase.

JIMD Rep 2020 Jul 15;54(1):22-24. Epub 2020 Apr 15.

Department of Hepatology Birmingham Women's and Children's Hospital NHS Trust UK.

Our subject presented at 11 months of age, following a varicella zoster infection, with acute on chronic liver disease and was found to have raised serum chitotriosidase. White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosomal acid lipase deficiency were normal. Niemann Pick type C (NPC) disease was considered as a provisional diagnosis and liver transplantation assessment deferred until recovery from varicella and results of mutational analysis of NPC gene were available. Read More

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Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging.

Eur Heart J Case Rep 2020 Jun 3;4(3):1-6. Epub 2020 May 3.

Department of Radiology, Jacobi Medical Center, 1400 Pelham Pkwy S, Bronx, NY 10461, USA.

Background: Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disease caused by mutation in the GBE1 gene. Presentation of GSD IV varies on a continuum of severity and symptomatology ranging from neonatal death to mild adult-onset disease with variable involvement of hepatic, muscular, neurologic, dermatologic, and cardiac systems. Cardiomyopathy seen in GSD IV is also heterogeneous and its appearance on cardiac magnetic resonance imaging (CMR) is rarely described. Read More

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Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.

Mol Genet Metab Rep 2020 Sep 18;24:100601. Epub 2020 May 18.

Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba 266-0007, Japan.

Glycogen storage disease type IV (GSD IV) is a rare inborn metabolic disorder characterized by the accumulation of amylopectin-like glycogen in the liver or other organs. The hepatic subtype may appear normal at birth but rapidly develops to liver cirrhosis in infancy. Liver pathological findings help diagnose the hepatic form of the disease, supported by analyses of enzyme activity and gene variants. Read More

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September 2020

Novel variants in Turkish patients with glycogen storage disease.

Pediatr Int 2020 Oct 28;62(10):1145-1150. Epub 2020 Sep 28.

Division of Pediatric Metabolism, Kanuni Sultan Süleyman Training and Research Hospital, University of Health Sciences, İstanbul, Turkey.

Background: Glycogen storage diseases (GSD) are disorders of autosomal recessive carbohydrate metabolism, characterized by glycogen accumulation. The liver and muscle tissue are commonly affected but patients may present with different clinical manifestations. The presence of glycogen can be demonstrated in biopsies and definitive diagnosis can be made by enzymatic or molecular analysis. Read More

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October 2020

Efficient correction of a deleterious point mutation in primary horse fibroblasts with CRISPR-Cas9.

Sci Rep 2020 05 4;10(1):7411. Epub 2020 May 4.

Department of Veterinary Physiology and Pharmacology, Texas A&M University, College Station, Texas, USA.

Phenotypic selection during animal domestication has resulted in unwanted incorporation of deleterious mutations. In horses, the autosomal recessive condition known as Glycogen Branching Enzyme Deficiency (GBED) is the result of one of these deleterious mutations (102C > A), in the first exon of the GBE1 gene (GBE1). With recent advances in genome editing, this type of genetic mutation can be precisely repaired. Read More

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Glycogen branching enzyme controls cellular iron homeostasis via Iron Regulatory Protein 1 and mitoNEET.

Nat Commun 2019 11 29;10(1):5463. Epub 2019 Nov 29.

Department of Biological Sciences, University of Alberta, G-504 Biological Sciences Bldg, Edmonton, Alberta, T6G 2E9, Canada.

Iron Regulatory Protein 1 (IRP1) is a bifunctional cytosolic iron sensor. When iron levels are normal, IRP1 harbours an iron-sulphur cluster (holo-IRP1), an enzyme with aconitase activity. When iron levels fall, IRP1 loses the cluster (apo-IRP1) and binds to iron-responsive elements (IREs) in messenger RNAs (mRNAs) encoding proteins involved in cellular iron uptake, distribution, and storage. Read More

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November 2019

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy.

Pediatr Dev Pathol 2020 Aug 20;23(4):301-305. Epub 2019 Nov 20.

Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina.

Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disorder that results from defects in the gene (3p12.2) and subsequent deficiencies of glycogen branching. We report a case of GSD IV diagnosed at autopsy in a 35 4/7 weeks gestational age female neonate that died shortly after birth. Read More

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Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.

Neurology 2019 11 16;93(19):e1756-e1767. Epub 2019 Oct 16.

From the Departments of Neurology (L.H., E.B., P.A.v.D., N.A.M.E.v.d.B.) and Pediatrics (M.E.K., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases Erasmus MC, and Department of Biostatistics (D.R.), University Medical Center Rotterdam, Netherlands; Institute of Myology (J.-Y.H., B.P., N.T., A.C.), Pitié-Salpêtrière Hospital, Paris; Department of Neurology (P.L.), Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, AP-HP, Garches; and INSERM U1179 (P.L.), END-ICAP, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.

Objective: To determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response.

Methods: In this prospective, multicenter cohort study, we studied 30 patients from the Netherlands and France who had started ERT during the only randomized placebo-controlled clinical trial with ERT in late-onset Pompe disease (NCT00158600) or its extension (NCT00455195) in 2005 to 2008. Main outcomes were walking ability (6-minute walk test [6MWT]), muscle strength (manual muscle testing using Medical Research Council [MRC] grading), and pulmonary function (forced vital capacity [FVC] in the upright and supine positions), assessed at 3- to 6-month intervals before and after the start of ERT. Read More

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November 2019

Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities.

J Ayub Med Coll Abbottabad 2019 Jul-Sep;31(3):368-371

Department of Paediatric Gastroenterology & Hepatology, The Children's Hospital & The Institute of Child Health Lahore, Pakistan.

Background: Objectives of the study were to determine the clinical spectrum of presentation and various modalities helpful in the diagnosis of liver glycogenosis short of genetic analysis.

Methods: All patients under 18 years of age presenting to Paediatric Gastroenterology unit of Children's Hospital, Lahore with suspicion of hepatic glycogen storage disease (GSD) were enrolled over a period of 18 months. Demographic profile and various factors under observation were recorded. Read More

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January 2020

Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient.

BMJ Case Rep 2019 Sep 16;12(9). Epub 2019 Sep 16.

Pathology, University of Washington, Seattle, Washington, USA.

Glycogen storage disease type IV (GSD IV, Andersen disease) is a rare autosomal recessive condition. The childhood neuromuscular subtype of GSD IV is characterised by a progressive skeletal myopathy with cardiomyopathy also reported in some individuals. We report a case of a 19-year-old man who presented with severe non-ischaemic dilated cardiomyopathy (NIDCM) necessitating heart transplantation, with biopsy showing aggregations of polyglucosan bodies in cardiac myocytes. Read More

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September 2019

Update on polyglucosan storage diseases.

Virchows Arch 2019 Dec 30;475(6):671-686. Epub 2019 Jul 30.

Neuromuscular Department, Fondazione San Camillo Hospital IRCCS, Lido Venice, Italy.

An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of nine different genetic disorders manifesting with a variety of clinical phenotypes that affect mainly the nervous system (Lafora disease, adult PG body disease), the heart (glycogen storage disease type XV, hypertrophic cardiomyopathy type 6, PG body myopathy type 1) and the skeletal muscle (glycogen storage disease type IV, glycogen storage disease type VII, PG body myopathy type 2), depending on the organs which are mostly affected by the PG aggregates. The pathological feature of PG storage in tissues is a hallmark of these disorders. Whole-genome sequencing has allowed to obtain a diagnosis in a large number of patients with a previously unrecognized disorder. Read More

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December 2019

Gene therapy for glycogen storage diseases.

Hum Mol Genet 2019 10;28(R1):R31-R41

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

The focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly, GSDs can be divided into types that affect liver or muscle or both tissues. Read More

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October 2019

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.

Adv Ther 2019 05 16;36(5):1177-1189. Epub 2019 Mar 16.

Department of Clinical and Experimental Medicine, UOC di Neurologia e Malattie Neuromuscolari, University of Messina, Messina, Italy.

Introduction: Patients with late-onset Pompe disease (LOPD) receiving enzyme replacement therapy (ERT) may develop IgG antibodies against alglucosidase alpha (anti-rhGAA) in the first 3 months of treatment. The exact role of these antibodies in modulating efficacy of ERT in this group of patients is still not fully understood. To assess whether anti rh-GAA antibodies interfere with ERT efficacy, we studied a large Italian cohort of LOPD patients. Read More

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Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

JIMD Rep 2019 20;45:99-104. Epub 2018 Dec 20.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.

Advancements in genetic testing now allow early identification of previously unresolved neuromuscular phenotypes. To illustrate this, we here present diagnoses of glycogen storage disease IV (GSD IV) in two patients with hypotonia and delayed development of gross motor skills. Patient 1 was diagnosed with congenital myopathy based on a muscle biopsy at the age of 6 years. Read More

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December 2018

Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV.

JIMD Rep 2019 12;45:51-55. Epub 2018 Oct 12.

Department of Neonatology, The Children's Hospital at OU Medical Center, Oklahoma City, OK, USA.

Glycogen storage disease type IV (GSD-IV), or Andersen disease, is a rare autosomal recessive disorder that results from the deficiency of glycogen branching enzyme (GBE). This in turn results in accumulation of abnormal glycogen molecules that have longer outer chains and fewer branch points. GSD-IV manifests in a wide spectrum, with variable phenotypes depending on the degree and type of tissues in which this abnormal glycogen accumulates. Read More

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October 2018

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

Clin Dysmorphol 2019 Jan;28(1):17-21

Departments of Medical Genetics.

Glycogen storage disease IV (GSD IV), caused by a defect in GBE1, is a clinically heterogeneous disorder. A classical hepatic form and a neuromuscular form have been described. The severe neuromuscular form presents as a fetal akinesia deformation sequence or a congenital subtype. Read More

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January 2019

Analysis of mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.

Mol Genet Metab Rep 2018 Dec 13;17:31-37. Epub 2018 Sep 13.

Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama 232-8555, Japan.

Background: Glycogen storage disease type IV (GSD IV), caused by mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include non-progressive form (NP-GSD IV) and adult polyglucosan body disease (APBD). Thus far, only one clinical case of a patient with compound heterozygous mutations has been reported for the molecular analysis of NP-GSD IV. Read More

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December 2018

Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia.

J Inherit Metab Dis 2018 May 8. Epub 2018 May 8.

Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room 8N240C, NIH, 10 Center Drive, Bethesda, MD, 20892-1830, USA.

Glycogen storage disease type Ia (GSD-Ia) deficient in glucose-6-phosphatase-α (G6Pase-α) is a metabolic disorder characterized by impaired glucose homeostasis and a long-term complication of hepatocellular adenoma/carcinoma (HCA/HCC). Mitochondrial dysfunction has been implicated in GSD-Ia but the underlying mechanism and its contribution to HCA/HCC development remain unclear. We have shown that hepatic G6Pase-α deficiency leads to downregulation of sirtuin 1 (SIRT1) signaling that underlies defective hepatic autophagy in GSD-Ia. Read More

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Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Genet Med 2018 10 22;20(10):1284-1294. Epub 2018 Mar 22.

Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.

Purpose: Pompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage. Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at the 160 L production scale. In 2010, larger-scale rhGAA was approved for patients up to 8 years old without cardiomyopathy. Read More

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October 2018