551 results match your criteria Glycogen Storage Disease Type III

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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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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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 May 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

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

New approach to prepare fluorogenic branched dextrins for assaying glycogen debranching enzyme.

Glycoconj J 2020 12 17;37(6):667-679. Epub 2020 Nov 17.

Department of Chemistry, Graduate School of Science, Osaka Prefecture University, Gakuen-cho 1-1, Naka-ku, Sakai Osaka, 599-8531, Osaka, Japan.

Glycogen debranching enzyme (GDE), together with glycogen phosphorylase (GP), is responsible for the complete degradation of glycogen. GDE has distinct catalytic sites for 4-α-glucanotransferase and amylo-α-1,6-glucosidase. For the GDE sensitive assay, we previously developed the GP limit fluorogenic branched dextrin Glcα1-4Glcα1-4Glcα1-4Glcα1-4(Glcα1-4Glcα1-4Glcα1-4Glcα1-6)Glcα1-4Glcα1-4Glcα1-4GlcPA (B4/84, where Glc = D-glucose and GlcPA = 1-deoxy-1-[(2-pyridyl)amino]-D-glucitol). Read More

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December 2020

A novel homozygous splicing mutation of the AGL gene in a Chinese patient with severe myopathy involvement of glycogen storage disease type IIIa.

Neurol Sci 2021 04 11;42(4):1623-1625. Epub 2020 Nov 11.

Department of Neurology, Peking University First Hospital, Xishiku St 8#, Beijing, 100034, China.

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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

Orphanet J Rare Dis 2020 10 15;15(1):187. Epub 2020 Oct 15.

Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Pg. Vall d'Hebron 119, 08035, Barcelona, Catalonia, Spain.

Background: International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) and to disseminate the knowledge of these disorders.

Results: Teams from nine different countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium that developed the first European registry dedicated to rare muscle glycogenoses. Read More

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October 2020

Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA.

Data Brief 2020 Oct 21;32:106205. Epub 2020 Aug 21.

University Children's Hospital, University Medical Center Ljubljana, Bohoričeva ulica 20, Ljubljana, Slovenia.

Datasets highlighting effects of ketogenic diet (KD) in a glycogen storage disease type IIIa patient is presented with the longest patient follow up report to date. Now a 15-year old girl with GSD type IIIa, diagnosed at 1 year of age, had initially introduced treatment with diet high carbohydrates, according to the recommendations. Progressively she developed left ventricular obstructive hypertrophy, hepatomegaly and skeletal myopathy. Read More

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October 2020

Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa.

Ann Nutr Metab 2020 24;76(4):233-241. Epub 2020 Jul 24.

Division of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey.

Introduction: Glycogen storage disease Type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme, encoded by the AGL gene. Two clinical types of the disease are most prevalent: GSD IIIa involves the liver and muscle, whereas IIIb affects only the liver. The classical dietetic management of GSD IIIa involves prevention of fasting, frequent feeds with high complex carbohydrates in small children, and a low-carb-high-protein diet in older children and adults. Read More

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A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.

Mol Ther Methods Clin Dev 2020 Sep 2;18:240-249. Epub 2020 Jun 2.

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

Glycogen storage disease type III (GSD III) is an inherited disorder caused by a deficiency of glycogen debranching enzyme (GDE), which results in the accumulation of abnormal glycogen (limit dextrin) in the cytoplasm of liver, heart, and skeletal muscle cells. Currently, there is no curative treatment for this disease. Gene therapy with adeno-associated virus (AAV) provides an optimal treatment approach for monogenic diseases like GSD III. Read More

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September 2020

Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.

J Pediatr Endocrinol Metab 2020 Jul;33(7):923-930

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030,China.

Objectives To investigate the clinical and genetic characteristics of children with glycogen storage disease type IIIa (GSD IIIa) and to explore the muscle involvement and manifestations of GSD IIIa patients. Methods The clinical data of 11 patients with GSD IIIa diagnosed by genetic testing from 2003 to 2019 were retrospectively analyzed. Results Twenty variants of AGL gene were detected in 11 patients, eight of which were novel variants. Read More

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"On air" diagnosis of sudden cardiac death with dynamic Holter ECG in glycogen storage disease type III young female.

Minerva Pediatr 2020 04;72(2):142-144

Section of Forensic Medical Sciences, Department of Health Sciences, University of Florence, Florence, Italy.

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Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases.

PLoS One 2020 19;15(5):e0233050. Epub 2020 May 19.

Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.

Introduction: Lysosomal storage diseases (LSDs) are rare inherited metabolic diseases characterized by an abnormal accumulation of various toxic materials in the cells as a result of enzyme deficiencies leading to tissue and organ damage. Among clinical manifestations, cardiac diseases are particularly important in Pompe glycogen storage diseases (PD), in glycosphingolipidosis Fabry disease (FD), and mucopolysaccharidoses (MPS). Here, we evaluated the occurrence of aortopathy in knock out (KO) mouse models of three different LSDs, including PD, FD, and MPS IIIB. Read More

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Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience.

Diagnostics (Basel) 2020 May 13;10(5). Epub 2020 May 13.

Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, 04-730 Warsaw, Poland.

Background: The published data on the long-term outcomes of glycogen storage disease (GSD) patients is sparse in the literature. The aim of this study was to analyze the long-term (over 20 years) follow-up of patients with hepatic types of GSD-I, III, VI, and IX-from childhood to adulthood, managed by one referral center.

Patients And Methods: Thirty adult patients with hepatic GSD were included in the study. Read More

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Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study.

J Clin Exp Hepatol 2020 May-Jun;10(3):222-227. Epub 2019 Jul 25.

Paediatric Endocrinology and Metabolism Unit, Christian Medical College and Hospital, Vellore, India.

Background: Glycogen storage disease (GSD) is typified by early morning seizures. Absence of this results in delayed diagnosis, especially the non-GSD 1 group. Data are limited to few patients with unclear outcome. Read More

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Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Mol Genet Metab Rep 2020 Jun 1;23:100583. Epub 2020 May 1.

Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, 104 bd Raymond Poincaré, 92380 Garches, France.

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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

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.

Am J Med Genet A 2020 05 28;182(5):1190-1200. Epub 2020 Mar 28.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Glycogen storage disease type III (GSD III) is a rare autosomal recessive inborn error of glycogen degradation pathway due to deficiency or reduced activity of glycogen debranching enzyme (GDE) that results in accumulation of abnormal glycogen in the liver, muscle, and heart. The cardinal hallmarks are hepatomegaly, fasting hypoglycemia, seizures, growth retardation, progressive skeletal myopathy, and cardiomyopathy in few. To date, 258 mutations in amyloglucosidase (AGL) gene have been identified worldwide. Read More

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Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.

J Inherit Metab Dis 2020 07 26;43(4):770-777. Epub 2020 Feb 26.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

A potential role of dietary lipids in the management of hepatic glycogen storage diseases (GSDs) has been proposed, but no consensus on management guidelines exists. The aim of this study was to describe current experiences with dietary lipid manipulations in hepatic GSD patients. An international study was set up to identify published and unpublished cases describing hepatic GSD patients with a dietary lipid manipulation. Read More

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Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review.

Clin Respir J 2020 May 22;14(5):422-429. Epub 2020 Jan 22.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

Lysosomal storage disorders (LSDs) are multisystemic, progressive and clinically very heterogeneous. Respiratory complications are not regarded as the principal problems of LSDs, but significantly impact morbidity. In this review, we focus on pulmonary complications observed in late-onset LSDs, their milder forms that are recognised in adulthood. Read More

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McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.

Int J Mol Sci 2019 Nov 25;20(23). Epub 2019 Nov 25.

Achucarro Basque Center for Neuroscience, Science Park of the Universidad del País Vasco/Euskal Herriko Unibertsitatea (UPV/EHU), 48940 Leioa, Spain.

McArdle disease, also known as glycogen storage disease type V (GSDV), is characterized by exercise intolerance, the second wind phenomenon, and high serum creatine kinase activity. Here, we recapitulate mutations in the population responsible for this disease. Traditionally, McArdle disease has been considered a metabolic myopathy caused by the lack of expression of the muscle isoform of the glycogen phosphorylase (PYGM). Read More

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November 2019

Mycotoxin Dietary Exposure Assessment through Fruit Juices Consumption in Children and Adult Population.

Toxins (Basel) 2019 11 22;11(12). Epub 2019 Nov 22.

Laboratory of Toxicology and Food Chemistry, Faculty of Pharmacy, University of Valencia, Burjassot, 46100 Valencia, Spain.

Consumption of fruit juice is becoming trendy for consumers seeking freshness and high vitamin and low caloric intake. Mycotoxigenic moulds may infect fruits during crop growth, harvest, and storage leading to mycotoxin production. Many mycotoxins are resistant to food processing, which make their presence in the final juice product very likely expected. Read More

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November 2019

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.

Acta Neuropathol Commun 2019 10 28;7(1):167. Epub 2019 Oct 28.

APHP, Department of Neurology, Raymond Poincaré Hospital, Garches, France.

Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests with liver symptoms in infancy and muscle involvement during early adulthood. Muscle biopsy is mainly performed in patients diagnosed in adulthood, as routine diagnosis relies on blood or liver GDE analysis, followed by AGL gene sequencing. Read More

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October 2019

Expression of a Functional Recombinant Human Glycogen Debranching Enzyme (hGDE) in N. benthamiana Plants and in Hairy Root Cultures.

Protein Pept Lett 2020 ;27(2):145-157

Department of Sustainability (SSPT), Biotechnology Laboratory, ENEA, Italian National Agency for New Technologies, Energy and Sustainable Economic Development, Rome,Italy.

Background: Glycogen storage disease type III (GSDIII, Cori/Forbes disease) is a metabolic disorder due to the deficiency of the Glycogen Debranching Enzyme (GDE), a large monomeric protein (about 176 kDa) with two distinct enzymatic activities: 4-α-glucantransferase and amylo-α-1,6-glucosidase. Several mutations along the amylo-alpha-1,6-glucosidase,4-alphaglucanotransferase (Agl) gene are associated with loss of enzymatic activity. The unique treatment for GSDIII, at the moment, is based on diet. Read More

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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

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

Hum Mol Genet 2020 01;29(1):20-30

Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia.

McArdle disease is a disorder of carbohydrate metabolism that causes painful skeletal muscle cramps and skeletal muscle damage leading to transient myoglobinuria and increased risk of kidney failure. McArdle disease is caused by recessive mutations in the muscle glycogen phosphorylase (PYGM) gene leading to absence of PYGM enzyme in skeletal muscle and preventing access to energy from muscle glycogen stores. There is currently no cure for McArdle disease. Read More

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January 2020