533 results match your criteria Glycogen Storage Disease Type III


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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http://dx.doi.org/10.1016/j.omtm.2020.05.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327847PMC
September 2020

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

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

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

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http://dx.doi.org/10.23736/S0026-4946.19.05496-3DOI Listing

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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http://dx.doi.org/10.3390/diagnostics10050297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277974PMC

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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http://dx.doi.org/10.1016/j.jceh.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212290PMC

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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http://dx.doi.org/10.1016/j.ymgmr.2020.100583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200937PMC

Novel variants in turkish patients with glycogen storage disease.

Pediatr Int 2020 May 6. Epub 2020 May 6.

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

Background: Glycogen storage diseases (GSD) are disorder of autosomal recessive carbohydrate metabolism characterized by glycogen accumulation. Commonly affected organs are liver and muscle tissue, 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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http://dx.doi.org/10.1111/ped.14286DOI Listing

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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http://dx.doi.org/10.1002/ajmg.a.61547DOI Listing
May 2020
2.159 Impact Factor

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

J Inherit Metab Dis 2020 Jul 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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http://dx.doi.org/10.1002/jimd.12224DOI Listing

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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http://dx.doi.org/10.3390/ijms20235919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929006PMC
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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http://dx.doi.org/10.1186/s40478-019-0815-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819650PMC
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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http://dx.doi.org/10.2174/0929866526666191014154047DOI Listing
June 2020
4 Reads

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
4 Reads

Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.

Mol Genet Genomic Med 2019 10 27;7(10):e00945. Epub 2019 Aug 27.

Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Background: Uniparental disomy (UPD) leading to autosomal recessive (AR) diseases is rare. We found an unusual homozygous state in two nonconsanguineous families, and only one parent in each family was a heterozygote.

Methods: Two patients with homozygosity for pathogenic variants were revealed by whole-exome sequencing (WES), further Sanger sequencing found that only one of the parents was a heterozygote. Read More

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http://dx.doi.org/10.1002/mgg3.945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785455PMC
October 2019
1 Read

Challenges of Gene Therapy for the Treatment of Glycogen Storage Diseases Type I and Type III.

Hum Gene Ther 2019 10 27;30(10):1263-1273. Epub 2019 Aug 27.

INTEGRARE, Genethon, Inserm, Université d'Evry, Université Paris-Saclay, Evry, France.

Glycogen storage diseases (GSDs) type I (GSDI) and type III (GSDIII), the most frequent hepatic GSDs, are due to defects in glycogen metabolism, mainly in the liver. In addition to hypoglycemia and liver pathology, renal, myeloid, or muscle complications affect GSDI and GSDIII patients. Currently, patient management is based on dietary treatment preventing severe hypoglycemia and increasing the lifespan of patients. Read More

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http://dx.doi.org/10.1089/hum.2019.102DOI Listing
October 2019
2 Reads

Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III.

Acta Myol 2019 03 1;38(1):17-20. Epub 2019 Mar 1.

Department of Medicine, University of Padua, Italy.

Glycogen storage disease type III (GSDIII) management in adult patients includes a high-protein diet with cornstarch supplementation to maintain a normal level of glucose in the blood. This regimen can prevent hypoglycaemia but does not seem to improve skeletal muscle and heart function. A 34 years-old patient with GSD IIIa with hypertrophic cardiomyopathy was then treated with a modified Atkins ketogenic diet. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598403PMC
March 2019
3 Reads

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.

Genet Med 2019 12 2;21(12):2686-2694. Epub 2019 Jul 2.

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

Purpose: In glycogen storage disease type III (GSD III), liver aminotransferases tend to normalize with age giving an impression that hepatic manifestations improve with age. However, despite dietary treatment, long-term liver complications emerge. We present a GSD III liver natural history study in children to better understand changes in hepatic parameters with age. Read More

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http://dx.doi.org/10.1038/s41436-019-0561-7DOI Listing
December 2019
11 Reads

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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http://dx.doi.org/10.1093/hmg/ddz133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796997PMC
October 2019
7 Reads

First report of glycogen storage disease type 111a in a Nigerian child.

Niger Postgrad Med J 2019 Apr-Jun;26(2):138-141

Department of Paediatrics, National Liver Institute, Menoufia University, Menoufia, Egypt.

Glycogen storage disease (GSD) is a rare inborn error of metabolism with an incidence of 1/20,000-40,000 live births. Some of the presenting clinical features can mimic diseases commonly seen in the tropics and subtropics. We report a 14-month-old Nigerian child who presented at our institution with GSD Type 111a to alert physicians on the need to consider and recognise this rare disorder. Read More

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http://dx.doi.org/10.4103/npmj.npmj_17_19DOI Listing
June 2019
24 Reads

Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.

Genes Genomics 2019 08 26;41(8):885-893. Epub 2019 Apr 26.

Genetics and Molecular Biology Unit, Institute of Biological Sciences, Faculty of Science, University of Malaya, 50603, Kuala Lumpur, Malaysia.

Background: Glycogen storage disease type III is an autosomal recessive disorder that is caused by deficiencies of the glycogen debranching enzyme. Mutations within the AGL gene have been found to be heterogeneous, with some common mutations being reported in certain populations. The mutation spectrum of AGL gene in the multi-ethnic Malaysian population is still unknown. Read More

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http://link.springer.com/10.1007/s13258-019-00815-9
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http://dx.doi.org/10.1007/s13258-019-00815-9DOI Listing
August 2019
7 Reads
0.596 Impact Factor

Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.

Muscle Nerve 2019 07 24;60(1):72-79. Epub 2019 Apr 24.

APHP, Service de Radiologie GHU PIFO pôle neuro-locomoteur, Hôpital Raymond Poincaré, Garches, France.

Introduction: The main objective of this study was to describe muscle involvement on whole-body magnetic resonance imaging scans in adults at different stages of glycogen-storage disease type III (GSDIII).

Methods: Fifteen patients, 16-59 years of age, were examined on a 3-T system. The examinations consisted of coronal and axial T1-weighted images or fat images with a Dixon technique, and were scored for 47 muscles using Mercuri's classification. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.26483
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http://dx.doi.org/10.1002/mus.26483DOI Listing
July 2019
48 Reads

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Mol Genet Genomic Med 2019 05 27;7(5):e634. Epub 2019 Mar 27.

Division of Metabolism, Department of Pediatrics Specialties, Bambino Gesù Children's Hospital, Rome, Italy.

Background: Glycogen storage disease type III (GSDIII) is caused by mutations of AGL gene with debranching enzyme deficiency. Patients with GSDIII manifest fasting hypoglycemia, hepatomegaly, hepatopathy, myopathy, and cardiomyopathy. We report on an 18-year-old boy with a profound growth retardation (<3 SD) besides typical clinical features of GSDIII, whereby endocrinological studies were negative. Read More

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http://dx.doi.org/10.1002/mgg3.634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503021PMC
May 2019
7 Reads

Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice.

Carcinogenesis 2019 03;40(1):194-201

Department of Surgery, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.

Amylo-α-1,6-glucosidase,4-α-glucanotransferase (AGL) is an enzyme primarily responsible for glycogen debranching. Germline mutations lead to glycogen storage disease type III (GSDIII). We recently found AGL to be a tumor suppressor in xenograft models of human bladder cancer (BC) and low levels of AGL expression in BC are associated with poor patient prognosis. Read More

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https://academic.oup.com/carcin/advance-article/doi/10.1093/
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http://dx.doi.org/10.1093/carcin/bgy139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6753590PMC
March 2019
16 Reads

Liver transplantation in patients with type IIIa glycogen storage disease, cirrhosis and hepatocellular carcinoma.

Rev Esp Enferm Dig 2019 Feb;111(2):168-169

Aparato Digestivo, Hospital Clínico Universitario Virgen de la Arrixaca, España.

Type III glycogen storage disease (GSD-III) is an autosomal recessive disorder due to the deficiency of the glycogen debrancher enzyme. 80% of the patients have hepatic and muscular involvement (IIIa), compared to 15% with only liver involvement (IIIb). As the life expectancy improves in these patients, the possible liver complications are better understood. Read More

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https://online.reed.es/fichaArticulo.aspx?iarf=685769745233-
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http://dx.doi.org/10.17235/reed.2018.5856/2018DOI Listing
February 2019
19 Reads

Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients.

Neuropediatrics 2019 02 11;50(1):22-30. Epub 2018 Oct 11.

Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Background: Our aim was to describe the natural history of neuromuscular involvement (NMI) in glycogen storage disease type III (GSDIII).

Methods: We conducted a longitudinal study of 50 Tunisian patients, 9.87 years old in average. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1669786
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http://dx.doi.org/10.1055/s-0038-1669786DOI Listing
February 2019
29 Reads
1.104 Impact Factor

Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases.

JIMD Rep 2019 22;45:21-27. Epub 2018 Sep 22.

Post-graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Hepatic glycogen storage diseases (GSDs) are inborn errors of metabolism whose dietary treatment involves uncooked cornstarch administration and restriction of simple carbohydrate intake. The prevalence of feeding difficulties (FDs) and orofacial myofunctional disorders (OMDs) in these patients is unknown.

Objective: To ascertain the prevalence of FDs and OMDs in GSD. Read More

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http://dx.doi.org/10.1007/8904_2018_131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336547PMC
September 2018
13 Reads

A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.

J Pediatr Endocrinol Metab 2018 Sep;31(9):979-986

Research Laboratory LR12SP02, Pediatric and Metabolic Department, La Rabta Hospital, Faculty of Medecine of Tunis, University of Tunis El Manar, Jabberi, Jebal Lakhdhar, Tunis, Tunisia.

Background Glycogen storage disease type III (GSDIII), due to a deficiency of glycogen debrancher enzyme (GDE), is particularly frequent in Tunisia. Phenotypic particularities of Tunisian patients remain unknown. Our aim was to study complications of GSDIII in a Tunisian population and to explore factors interfering with its course. Read More

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http://dx.doi.org/10.1515/jpem-2018-0151DOI Listing
September 2018
59 Reads
0.711 Impact Factor

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.

Biochim Biophys Acta Mol Basis Dis 2018 10 1;1864(10):3407-3417. Epub 2018 Aug 1.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; University of Milan, Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Milan, Italy.

Glycogen disease type III (GSDIII), a rare incurable autosomal recessive disorder due to glycogen debranching enzyme deficiency, presents with liver, heart and skeletal muscle impairment, hepatomegaly and ketotic hypoglycemia. Muscle weakness usually worsens to fixed myopathy and cardiac involvement may present in about half of the patients during disease. Management relies on careful follow-up of symptoms and diet. Read More

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http://dx.doi.org/10.1016/j.bbadis.2018.07.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134197PMC
October 2018
33 Reads

Missense mutations have unexpected consequences: The McArdle disease paradigm.

Hum Mutat 2018 10 26;39(10):1338-1343. Epub 2018 Jul 26.

Grupo de Investigación de Enfermedades Mitocondriales y Neuromusculares, Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.

McArdle disease is a disorder of muscle glycogen metabolism caused by mutations in the PYGM gene, encoding for the muscle-specific isoform of glycogen phosphorylase (M-GP). The activity of this enzyme is completely lost in patients' muscle biopsies, when measured with a standard biochemical test which, does not allow to determine M-GP protein levels. We aimed to determine M-GP protein levels in the muscle of McArdle patients, by studying biopsies of 40 patients harboring a broad spectrum of PYGM mutations and 22 controls. Read More

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http://doi.wiley.com/10.1002/humu.23591
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http://dx.doi.org/10.1002/humu.23591DOI Listing
October 2018
76 Reads

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

J Inherit Metab Dis 2018 11 20;41(6):1027-1035. Epub 2018 Jun 20.

Grup de Recerca en Malalties Neuromusculars i Neuropediatriques, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Barcelona, Spain.

McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase. Some cases of "manifesting" heterozygotes or carriers (i.e. Read More

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http://link.springer.com/10.1007/s10545-018-0203-2
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http://dx.doi.org/10.1007/s10545-018-0203-2DOI Listing
November 2018
58 Reads

[Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease].

Biomedica 2018 05 1;38(0):30-42. Epub 2018 May 1.

Grupo de Gastrohepatología, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.

Introduction: Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme. The disease is characterized by fasting hypoglycemia, hepatomegaly and progressive myopathy. Molecular analyses of AGL have indicated heterogeneity depending on ethnic groups. Read More

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http://dx.doi.org/10.7705/biomedica.v38i0.3454DOI Listing
May 2018
15 Reads

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.

J Clin Neuromuscul Dis 2018 Jun;19(4):203-210

Iranian Center of Neurological Research, Neuroscience Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Objectives: Glycogen storage disease type 3 (GSD-III) is a rare inherited metabolic disorder caused by glycogen debranching enzyme deficiency. Various pathogenic mutations of the AGL gene lead to abnormal accumulation of glycogen in liver, skeletal, and cardiac muscles. Here, we report distinct clinical and genetic data of Iranian patients with GSD-III. Read More

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http://Insights.ovid.com/crossref?an=00131402-201806000-0000
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http://dx.doi.org/10.1097/CND.0000000000000212DOI Listing
June 2018
16 Reads

Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases.

Mol Ther 2018 07 27;26(7):1771-1782. Epub 2018 Apr 27.

Dicerna Pharmaceuticals, Cambridge, MA 02140, USA. Electronic address:

Glycogen storage diseases (GSDs) of the liver are devastating disorders presenting with fasting hypoglycemia as well as hepatic glycogen and lipid accumulation, which could lead to long-term liver damage. Diet control is frequently utilized to manage the potentially dangerous hypoglycemia, but there is currently no effective pharmacological treatment for preventing hepatomegaly and concurrent liver metabolic abnormalities, which could lead to fibrosis, cirrhosis, and hepatocellular adenoma or carcinoma. In this study, we demonstrate that inhibition of glycogen synthesis using an RNAi approach to silence hepatic Gys2 expression effectively prevents glycogen synthesis, glycogen accumulation, hepatomegaly, fibrosis, and nodule development in a mouse model of GSD III. Read More

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http://dx.doi.org/10.1016/j.ymthe.2018.04.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035741PMC
July 2018
21 Reads

Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients.

J Inherit Metab Dis 2018 11 16;41(6):947-953. Epub 2018 Apr 16.

Centre de Référence des Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, HUPS, AP-HP, Clamart, France.

Glycogen storage diseases (GSDs) are rare genetic disorders of glycogen metabolism where the liver, kidneys, respiratory and cardiac muscles, as well as the immune and skeletal systems can be affected. Oral manifestations can also be present, but the specificity and frequency of these manifestations in the different forms of GSD are unknown. Analysis of a case series of 60 patients presenting four types of GSD (Ia, Ib, III, and IX) showed that the different types of GSDs have common and specific oral manifestations. Read More

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http://dx.doi.org/10.1007/s10545-018-0182-3DOI Listing
November 2018
12 Reads

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.

BMC Med Genet 2018 04 4;19(1):54. Epub 2018 Apr 4.

Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.

Background: Glycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by AGL gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutation of AGL among different ethnic groups. However, GSD III is rarely reported in Chinese population. Read More

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http://dx.doi.org/10.1186/s12881-018-0560-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883582PMC
April 2018
10 Reads

Non-osteogenic muscle hypertrophy in children with McArdle disease.

J Inherit Metab Dis 2018 11 28;41(6):1037-1042. Epub 2018 Mar 28.

GENUD Toledo Research Group, Universidad de Castilla-La Mancha, Avda Carlos III s/n, 45071, Toledo, Spain.

Introduction: McArdle disease is an inborn disorder of muscle glycogen metabolism that produces exercise intolerance, and has been recently associated with low values ​​of lean mass (LM) and bone mineral content (BMC) and density (BMD) in affected adults. Here we aimed to study whether this bone health problem begins in childhood.

Methods: Forty children and adolescents were evaluated: 10 McArdle disease and 30 control children (mean age of both groups, 13 ± 2y). Read More

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http://dx.doi.org/10.1007/s10545-018-0170-7DOI Listing
November 2018
2 Reads

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

Dev Med Child Neurol 2018 06 24;60(6):579-586. Epub 2018 Mar 24.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.

Aim: To examine the long-term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy.

Method: Using neuropsychological tests and brain magnetic resonance imaging (MRI), we prospectively assessed a cohort of 11 classic infantile Pompe patients aged up to 17 years.

Results: From approximately age 2 years onwards, brain MRI showed involvement of the periventricular white matter and centrum semiovale. Read More

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http://dx.doi.org/10.1111/dmcn.13740DOI Listing
June 2018
78 Reads

Pre- and peripartal management of a woman with McArdle disease: a case report.

Gynecol Endocrinol 2018 Sep 21;34(9):736-739. Epub 2018 Mar 21.

a Department of Gynecology and Obstetrics, Division of Obstetrics and Feto-maternal Medicine , Medical University of Vienna , Vienna , Austria.

McArdle disease or glycogen storage disease (GSD) type V is a rare autosomal recessive inherited disorder in skeletal muscle metabolism leading to exercise intolerance, muscle cramps and in some cases to rhabdomyolysis and acute renal failure due to elevated serum myoglobin levels. Albeit the uterine smooth muscle is not affected, pregnancy and delivery can be physically strenuous and may require specific anesthesiologic care. However, data on pregnancy progress and outcome and on special implications linked to anesthesia in women with McArdle's disease is scarce, thus posing a challenge to pre- and peripartal management. Read More

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http://dx.doi.org/10.1080/09513590.2018.1451507DOI Listing
September 2018
10 Reads

Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX.

Metabolism 2018 05 2;82:135-141. Epub 2018 Feb 2.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 12808 Prague 2, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2018.01.004DOI Listing
May 2018
14 Reads

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.

Mol Ther 2018 03 28;26(3):890-901. Epub 2017 Dec 28.

INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, 91002 Evry, France; University Pierre and Marie Curie Paris 6 and INSERM U974, Paris, France; Genethon, 91002 Evry, France. Electronic address:

Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by a deficiency of glycogen-debranching enzyme (GDE), which results in profound liver metabolism impairment and muscle weakness. To date, no cure is available for GSDIII and current treatments are mostly based on diet. Here we describe the development of a mouse model of GSDIII, which faithfully recapitulates the main features of the human condition. Read More

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http://dx.doi.org/10.1016/j.ymthe.2017.12.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910667PMC
March 2018
122 Reads

Infantile-onset Pompe disease with neonatal debut: A case report and literature review.

Medicine (Baltimore) 2017 Dec;96(51):e9186

Department of Neonatology-Pediatrics.

Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment.

Patient Concerns: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening. Read More

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http://dx.doi.org/10.1097/MD.0000000000009186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758162PMC
December 2017
17 Reads

Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly.

J Pediatr Endocrinol Metab 2018 Mar;31(4):473-478

Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA.

Background: Glycogen storage diseases (GSDs) are a collection of disorders related to glycogen synthesis or degradation that classically present in infancy with hypoglycemia, failure to thrive and hepatomegaly; however, their phenotype can vary significantly.

Case Presentation: We present the cases of two children, 5 years old and 3.5 years old, who were referred to endocrinology for short stature. Read More

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http://dx.doi.org/10.1515/jpem-2017-0209DOI Listing
March 2018
22 Reads

Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis.

Authors:
M Zobeiri

Int J Organ Transplant Med 2017 1;8(4):217-220. Epub 2017 Nov 1.

Department of Internal Medicine, Imam Reza Hospital, Kermanshah University of Medical Sciences, Kermanshah, Iran.

Glycogen storage disease (GSD) type IIIa (Forbes-Cori disease) can be associated with severe liver disease. A patient with GSD type IIIa may therefore be a potential candidate for liver transplantation. Progressive myopathy makes uncertain the outcome of the patient and the transplant. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5756905PMC
November 2017
8 Reads

Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model.

J Physiol 2018 03 14;596(6):1035-1061. Epub 2018 Feb 14.

Research Institute of the Hospital 12 de Octubre ('i+12'), Madrid, Spain.

Key Points: Although they are unable to utilize muscle glycogen, McArdle mice adapt favourably to an individualized moderate-intensity endurance exercise training regime. Yet, they fail to reach the performance capacity of healthy mice with normal glycogen availability. There is a remarkable difference in the protein networks involved in muscle tissue adaptations to endurance exercise training in mice with and without glycogen availability. Read More

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http://dx.doi.org/10.1113/JP275292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5851888PMC
March 2018
97 Reads

Generation of a GDE heterozygous mutation human embryonic stem cell line WAe001-A-14 by CRISPR/Cas9 editing.

Stem Cell Res 2018 03 13;27:38-41. Epub 2017 Dec 13.

Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; Guangdong Provincial Key Laboratory of Biocomputing, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; University of Chinese Academy of Sciences, Beijing, China; Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, Guangzhou, China. Electronic address:

Glycogen debranching enzyme (GDE) plays a critical role in glycogenolysis. Mutations in the GDE gene are associated with a metabolic disease known as glycogen storage disease type III (GSDIII). We generated a mutant GDE human embryonic stem cell line, WAe001-A-14, using the CRISPR/Cas9 editing system. Read More

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http://dx.doi.org/10.1016/j.scr.2017.12.009DOI Listing
March 2018
35 Reads

Pompe disease in Austria: clinical, genetic and epidemiological aspects.

J Neurol 2018 Jan 27;265(1):159-164. Epub 2017 Nov 27.

Department of Neurology, Medical University Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and genetic data of patients with IOPD and LOPD. The number of patients receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase alfa. Read More

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http://dx.doi.org/10.1007/s00415-017-8686-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760608PMC
January 2018
12 Reads

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

BMC Genomics 2017 Nov 14;18(Suppl 8):819. Epub 2017 Nov 14.

Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.

Background: We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher.

Methods: We have now updated main genotype/phenotype data, as well as potential associations within/between them, of all Spanish individuals currently diagnosed with McArdle disease (December 2016). Read More

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http://dx.doi.org/10.1186/s12864-017-4188-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5688471PMC
November 2017
29 Reads

Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.

Indian Pediatr 2017 Sep;54(9):775-776

Department of Pediatrics, JIPMER, Puducherry; and *Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad; India. Correspondence to: Dr Barath Jagadisan, Associate Professor, Department of Pediatrics, JIPMER, Puducherry 605 006, India.

Background: Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without cirrhosis.

Case Characteristics: 2½-year-old girl presented with short stature, transaminase elevation and significant fibrosis, suggesting GSD-III.

Observation: A pathogenic mutation in PYGL gene suggested GSD-VI. Read More

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http://dx.doi.org/10.1007/s13312-017-1174-3DOI Listing
September 2017
41 Reads

[Characteristics of lipid metabolism and the cardiovascular system in glycogenosis types I and III].

Ter Arkh 2017;89(8):88-94

Federal Research Center of Nutrition and Biotechnology, Moscow, Russia.

Glycogen storage disease (GSD) is an inherited metabolic disorder characterized by early childhood lipid metabolic disturbances with potentially proatherogenic effects. The review outlines the characteristics of impaired lipid composition and other changes in the cardiovascular system in GSD types I and III. It analyzes the factors enabling and inhibiting the development of atherosclerosis in patients with GSD. Read More

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http://dx.doi.org/10.17116/terarkh201789888-94DOI Listing
December 2017
29 Reads

Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.

Mol Genet Metab 2017 11 30;122(3):108-116. Epub 2017 Aug 30.

Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by mutations in the AGL gene coding for the glycogen debranching enzyme. Current therapy is based on dietary adaptations but new preclinical therapies are emerging. The identification of outcome measures which are sensitive to disease progression becomes critical to assess the efficacy of new treatments in upcoming clinical trials. Read More

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http://dx.doi.org/10.1016/j.ymgme.2017.08.010DOI Listing
November 2017
67 Reads

[Identification of a novel mutation of AGL gene in two siblings affected with glycogen storage disease type IIIa].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Aug;34(4):499-503

Department of Pediatrics, the First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, China.

Objective: To detect potential mutation of the AGL gene in two siblings affected with glycogen storage disease type IIIa.

Methods: Clinical data of the two siblings was collected and analyzed. Genomic DNA was extracted from peripheral venous blood samples from the patients and their parents. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.04.007DOI Listing
August 2017
26 Reads