576 results match your criteria Glycogen Storage Disease Type III


Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.

Orphanet J Rare Dis 2022 06 20;17(1):241. Epub 2022 Jun 20.

Division of Metabolism, Department of Pediatric Subspecialties, Ospedale Pediatrico Bambino Gesù, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

Background: Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but muscular and renal tubular involvement, dyslipidemia and osteopenia can develop. Considering the paucity of literature available, herein we provide a narrative review of these latter forms of GSDs. Read More

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Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies.

Int J Mol Sci 2022 Jun 4;23(11). Epub 2022 Jun 4.

GENYO, Centre for Genomics and Oncological Research: Pfizer, University of Granada, Andalusian Regional Government PTS Granada-Avenida de la Ilustración 114, 18016 Granada, Spain.

Pompe disease (PD) is a rare disorder caused by mutations in the acid alpha-glucosidase (GAA) gene. Most gene therapies (GT) partially rely on the cross-correction of unmodified cells through the uptake of the GAA enzyme secreted by corrected cells. In the present study, we generated isogenic murine GAA-KO cell lines resembling severe mutations from Pompe patients. Read More

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The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.

BMC Pediatr 2022 May 16;22(1):284. Epub 2022 May 16.

Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.

Background: Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyopathy. However, it is not easy to make a definite diagnosis in early stage of disease only based on the clinical phenotype and imageology due to its clinical heterogeneity.

Case Presentation: We report a two-year-old girl with GSD III from a nonconsanguineous Chinese family, who presented with hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated levels of transaminases. Read More

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Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.

Int J Mol Sci 2022 Apr 22;23(9). Epub 2022 Apr 22.

Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), 28041 Madrid, Spain.

Glycogen storage disease type V (GSDV, McArdle disease) is a rare genetic myopathy caused by deficiency of the muscle isoform of glycogen phosphorylase (PYGM). This results in a block in the use of muscle glycogen as an energetic substrate, with subsequent exercise intolerance. The pathobiology of GSDV is still not fully understood, especially with regard to some features such as persistent muscle damage (i. Read More

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Paternal eNOS deficiency in mice affects glucose homeostasis and liver glycogen in male offspring without inheritance of eNOS deficiency itself.

Diabetologia 2022 Jul 30;65(7):1222-1236. Epub 2022 Apr 30.

Fifth Department of Medicine (Nephrology/Endocrinology/Rheumatology), University Medical Centre Mannheim, University of Heidelberg, Heidelberg, Germany.

Aims/hypothesis: It was shown that maternal endothelial nitric oxide synthase (eNOS) deficiency causes fatty liver disease and numerically lower fasting glucose in female wild-type offspring, suggesting that parental genetic variants may influence the offspring's phenotype via epigenetic modifications in the offspring despite the absence of a primary genetic defect. The aim of the current study was to analyse whether paternal eNOS deficiency may cause the same phenotype as seen with maternal eNOS deficiency.

Methods: Heterozygous (+/-) male eNOS (Nos3) knockout mice or wild-type male mice were bred with female wild-type mice. Read More

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Liver transplantation in glycogen storage disease: a single-center experience.

Orphanet J Rare Dis 2022 03 21;17(1):127. Epub 2022 Mar 21.

Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz, Iran.

Background: Glycogen storage diseases (GSDs) are inherited glycogen metabolic disorders which have various subtypes. GSDs of type I, III, IV, VI, and IX show liver involvement and are considered as hepatic types of GSDs. Thus, liver transplantation (LT) has been proposed as a final therapy for these types of GSD. Read More

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Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.

Orphanet J Rare Dis 2022 01 31;17(1):28. Epub 2022 Jan 31.

Musculoskeletal Science and Sports Medicine Research Centre, Manchester Metropolitan University, Manchester, UK.

Background: Individuals with glycogen storage disease IIIa (GSD IIIa) (OMIM #232400) experience muscle weakness and exercise limitation that worsen through adulthood. However, normative data for markers of physical capacity, such as strength and cardiovascular fitness, are limited. Furthermore, the impact of the disease on muscle size and quality is unstudied in weight bearing skeletal muscle, a key predictor of physical function. Read More

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January 2022

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.

J Pediatr Endocrinol Metab 2022 Apr 17;35(4):451-462. Epub 2022 Jan 17.

Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey.

Objectives: To reveal the different clinical presentations of liver glycogen storage disease type IX (GSD IX), which is a clinically and genetically heterogeneous type of glycogenosis.

Methods: The data from the electronic hospital records of 25 patients diagnosed with liver GSD IX was reviewed. Symptoms, clinical findings, and laboratory and molecular analysis were assessed. Read More

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Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.

J Pediatr Endocrinol Metab 2022 Mar 6;35(3):373-385. Epub 2022 Jan 6.

Department of Paediatrics & Child Health, The Aga Khan University (AKU) Hospital, Karachi, Pakistan.

Objectives: Evaluation of clinical, biochemical and molecular analysis of Pakistani patients with hepatic GSDs.

Methods: Medical charts, biochemical, histopathological and molecular results of patients with hepatic GSD were reviewed.

Results: Out of 55 GSD patients, 41 (74. Read More

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Cognitive impairment in glycogen storage disease type III with severe heart failure: A case report.

Rev Neurol (Paris) 2022 04 9;178(4):391-393. Epub 2021 Dec 9.

Department of Neurology, Nord-Est-Île-de-France Neuromuscular Reference Center, CHRU central, 54035 Nancy, France.

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Pharmacological Chaperone Therapy for Pompe Disease.

Molecules 2021 Nov 29;26(23). Epub 2021 Nov 29.

SPCMIB, UMR5068 CNRS-Université Paul Sabatier-Toulouse III, 118 Route de Narbonne, F-31062 Toulouse, France.

Pompe disease (PD), a lysosomal storage disease, is caused by mutations of the GAA gene, inducing deficiency in the acid alpha-glucosidase (GAA). This enzymatic impairment causes glycogen burden in lysosomes and triggers cell malfunctions, especially in cardiac, smooth and skeletal muscle cells and motor neurons. To date, the only approved treatment available for PD is enzyme replacement therapy (ERT) consisting of intravenous administration of GAA. Read More

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November 2021

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.

Mol Genet Metab Rep 2021 Dec 11;29:100821. Epub 2021 Nov 11.

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

Introduction: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients with GSD IIIb.

Objective And Methods: To describe longitudinal biochemical, radiological, muscle strength and ambulation, liver histopathological findings, and clinical outcomes in adults (≥18 years) with glycogen storage disease type III, by a retrospective review of medical records.

Results: Twenty-one adults with GSD IIIa (14 F & 7 M) and four with GSD IIIb (1 F & 3 M) were included in this natural history study. Read More

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December 2021

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.

Lancet Neurol 2021 12;20(12):1027-1037

Duke University Medical Center, Durham, NC, USA.

Background: Pompe disease is a rare disorder characterised by progressive loss of muscle and respiratory function due to acid α-glucosidase deficiency. Enzyme replacement therapy with recombinant human acid α-glucosidase, alglucosidase alfa, is the first approved treatment for the disease, but some patients do not respond, and many do not show a sustained benefit. We aimed to assess the safety and efficacy of an investigational two-component therapy (cipaglucosidase alfa, a novel recombinant human acid α-glucosidase, plus miglustat, an enzyme stabiliser) for late-onset Pompe disease. Read More

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December 2021

[Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Nov;38(11):1073-1076

Department of Gastroenterology, Anhui Provincial Children's Hospital, Hefei, Anhui 230051, China.

Objective: To explore the clinical features and genetic basis of two children with glycogen storage disease type III (GSD III).

Methods: The probands and their parents were subjected to genetic testing, and the pathogenity of candidate variants was analyzed by using bioinformatic tools.

Results: Sequencing has identified compound heterozygous variants of the AGL gene in both children, namely c. Read More

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November 2021

Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents.

J Clin Med 2021 Oct 18;10(20). Epub 2021 Oct 18.

Section of Child and Adolescent Neuropsychiatry, Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy.

Central nervous system (CNS) involvement has been variously studied in pediatric neuromuscular disorders (NMDs). The primary goal of this study was to assess cognitive functioning in NMDs, and secondary aims were to investigate possible associations of cognitive impairment with motor impairment, neurodevelopmental delay, and genotype. This was a cross-sectional study of 43 pediatric patients, affected by six NMDs. Read More

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October 2021

Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.

Mol Genet Metab 2021 11 9;134(3):223-234. Epub 2021 Oct 9.

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA. Electronic address:

Introduction: Early recognized manifestations of GSD III include hypoglycemia, hepatomegaly, and elevated liver enzymes. Motor symptoms such as fatigue, muscle weakness, functional impairments, and muscle wasting are typically reported in the 3rd to 4th decade of life.

Objective: In this study, we investigated the early musculoskeletal findings in children with GSD IIIa, compared to a cohort of adults with GSD IIIa. Read More

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November 2021

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.

Mol Genet Genomic Med 2021 10 18;9(10):e1779. Epub 2021 Aug 18.

Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China.

Background: The condition of uniparental disomy (UPD) occurs when an individual inherits two copies of a chromosome, or part of a chromosome, from one parent. Most cases of uniparental heterodisomy (UPhD) do not cause diseases, whereas cases of uniparental isodisomy (UPiD), while rare, may be pathogenic. Theoretically, UPiD may cause rare genetic diseases in a homozygous recessive manner. Read More

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October 2021

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.

Orphanet J Rare Dis 2021 06 3;16(1):254. Epub 2021 Jun 3.

Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal Do Rio Grande Do Sul, Ramiro Barcelos St., 2350, Porto Alegre, Brazil.

Background: Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is effective in achieving euglycemia, its impact on the quality of life of patients should be considered. Read More

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Glycogen Debrancher Enzyme Deficiency Myopathy.

J Clin Neuromuscul Dis 2021 Jun;22(4):224-227

Department of Neurology, Wolfson Medical Center Holon, Affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; and.

Abstract: Glycogen storage disease type III is a rare inherited disease caused by decreased activity of glycogen debranching enzyme. It affects primarily the liver, cardiac muscle, and skeletal muscle. Pure involvement of the skeletal muscle with adult onset is extremely rare. Read More

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

Biochimie 2021 Jul 20;186:28-32. Epub 2021 Apr 20.

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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Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype.

Neurology 2021 05 9;96(21):1007-1009. Epub 2021 Apr 9.

From the Neuromuscular Disorders Unit (C.D.-G.), Department of Neurology (D.S.-T., L.P., C.D.-G.), Laboratory of Mitochondrial Diseases, Department of Biochemistry, Instituto de Investigación (M.A.M.), and Departments of Clinical Genetics (M.I.Á.-M.) and Pathology (Neuropathology) (A.H.-L.), Hospital Universitario 12 de Octubre; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.A.M., C.D.-G.), Instituto de Salud Carlos III, Madrid; Department of Biochemistry and Molecular Genetics (M.I.Á.-M.), Hospital Clínic of Barcelona; and Hospital 12 de Octubre Research Institute (imas12) (C.D.-G.), Madrid, Spain.

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Diurnal variability of glucose tetrasaccharide (Glc) excretion in patients with glycogen storage disease type III.

JIMD Rep 2021 Mar 3;58(1):37-43. Epub 2020 Nov 3.

Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina USA.

Aim: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc), is a glycogen limit dextrin that is elevated in patients with glycogen storage disease (GSD) type III. We evaluated the potential of uncooked cornstarch therapy to interfere with Glc monitoring, by measuring the diurnal variability of Glc excretion in patients with GSD III.

Methods: Voids were collected at home over 24 hours, stored at 4°C and frozen within 48 hours. Read More

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Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype-specific: An investigator-initiated, randomized, crossover study.

J Inherit Metab Dis 2021 01 7;44(1):226-239. Epub 2020 Sep 7.

Neuroimaging Center, Department of Neuroscience, University Medical Center Groningen, Groningen, The Netherlands.

Glycogen storage disease type IIIa (GSDIIIa) is an inborn error of carbohydrate metabolism caused by a debranching enzyme deficiency. A subgroup of GSDIIIa patients develops severe myopathy. The purpose of this study was to investigate whether acute nutritional ketosis (ANK) in response to ketone-ester (KE) ingestion is effective to deliver oxidative substrate to exercising muscle in GSDIIIa patients. Read More

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January 2021

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Orphanet J Rare Dis 2021 01 9;16(1):24. Epub 2021 Jan 9.

Division of Metabolism and Metabolic Diseases Research Unit, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146, Rome, Italy.

Background: Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the diagnosis. We developed a new tandem mass spectrometry method for the screening of urinary OS which was applied to identify a large panel of storage disorders. Read More

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January 2021

Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.

J Inherit Metab Dis 2021 05 3;44(3):521-533. Epub 2021 Jan 3.

Généthon, Evry, France.

Glycogen storage disorder type III (GSDIII) is a rare inborn error of metabolism due to loss of glycogen debranching enzyme activity, causing inability to fully mobilize glycogen stores and its consequent accumulation in various tissues, notably liver, cardiac and skeletal muscle. In the pediatric population, it classically presents as hepatomegaly with or without ketotic hypoglycemia and failure to thrive. In the adult population, it should also be considered in the differential diagnosis of left ventricular hypertrophy or hypertrophic cardiomyopathy, myopathy, exercise intolerance, as well as liver cirrhosis or fibrosis with subsequent liver failure. Read More

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The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa.

Front Neurol 2020 19;11:554012. Epub 2020 Nov 19.

Department of Neurology, The People's Hospital of Jiaozuo City, Jiaozuo, China.

To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of late-onset GSD IIIa caused by mutation of the AGL gene in adults. The clinical data, skeletal muscle imaging, pathological data, and gene test results of a family with late-onset GSD IIIa in adulthood were collected in detail in November 2019. The proband is a 40-years-old male, who was admitted into our hospital due to a 2-years history of limb weakness. Read More

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November 2020

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Orphanet J Rare Dis 2020 11 24;15(1):330. Epub 2020 Nov 24.

Copenhagen Neuromuscular Center, Section 6921, Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark.

Background: The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Read More

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November 2020

Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.

Orphanet J Rare Dis 2020 11 23;15(1):329. Epub 2020 Nov 23.

Division of Dentistry, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy.

Background: Glycogen storage disease type II (GSDII) or Pompe disease is a rare autosomal recessive metabolic disorder that leads to intracellular glycogen storage in many tissues, mainly in skeletal muscle, heart and liver. Facial muscle weakness and altered craniofacial growth are very common in Pompe disease children. In this paper we describe the orofacial features in two children affected by GSDII and illustrate a multidisciplinary approach that involved enzyme replace therapy, non-invasive ventilation (NIV) and pediatric dentistry with 5-year follow-up. Read More

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November 2020