506 results match your criteria Glycogen Storage Disease Type III


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

Carcinogenesis 2018 Nov 7. Epub 2018 Nov 7.

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
November 2018
6 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
13 Reads

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

Neuropediatrics 2019 Feb 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
5 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
4 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
20 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 Oct 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
12 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
4 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
5 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
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
38 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
4 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
4 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
71 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
8 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
8 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
1 Read

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
22 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
4 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
15 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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September 2017
21 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
6 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
34 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
19 Reads

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.

Clin Genet 2018 Feb 11;93(2):350-355. Epub 2017 Dec 11.

Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.

Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and 5 GSD Ia patients. Read More

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http://dx.doi.org/10.1111/cge.13093DOI Listing
February 2018
20 Reads

Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy.

J Inherit Metab Dis 2017 09 13;40(5):703-708. Epub 2017 Jun 13.

Glycogen Storage Disease Program, University of Florida, Gainesville, FL, USA.

The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to medical intervention, and it is thought to inexorably progress to overt proteinuria and renal failure. Recent reports of reduced microalbuminuria following strict adherence to therapy counter this view. Read More

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http://dx.doi.org/10.1007/s10545-017-0054-2DOI Listing
September 2017
10 Reads

Involvement of glycogen debranching enzyme in bladder cancer.

Biomed Rep 2017 Jun 9;6(6):595-598. Epub 2017 May 9.

Gundersen Medical Foundation, La Crosse, WI 54601, USA.

Bladder cancer is the most common malignancy of the urinary system, however the molecular pathways underlying this disease are incompletely understood. To understand new regulators of bladder cancer progression, the authors carried out a functional genomic screen which identified glycogen debranching enzyme (AGL) as a novel regulator of bladder cancer growth. Glycogen debranching enzyme is involved in glycogen breakdown and germline loss of function mutation of this gene leads to glycogen storage disease type III. Read More

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http://dx.doi.org/10.3892/br.2017.907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5449955PMC
June 2017
24 Reads

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

Eur J Neurol 2017 06 6;24(6):768-e31. Epub 2017 May 6.

Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.

Background And Purpose: Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for starting and stopping ERT in adult patients were developed and reported here.

Methods: Three consensus meetings were organized through the European Pompe Consortium, a network of experts from 11 European countries in the field of Pompe disease. Read More

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http://doi.wiley.com/10.1111/ene.13285
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http://dx.doi.org/10.1111/ene.13285DOI Listing

A new variant in is associated with glycogen storage disease type IXa.

Mol Genet Metab Rep 2017 Mar 12;10:52-55. Epub 2017 Jan 12.

Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

Glucogenosis type IX is caused by pathogenic variants of the gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. , , , and genes were analyzed by Next Generation Sequencing (NGS). Read More

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http://dx.doi.org/10.1016/j.ymgmr.2017.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233919PMC
March 2017
56 Reads

Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.

Genet Med 2016 11 25;18(11):1128-1135. Epub 2016 Feb 25.

Laboratorio de Enfermedades Mitocondriales y Neuromusculares, Hospital 12 de Octubre, Madrid, Spain.

Purpose: McArdle disease is a metabolic disorder caused by pathogenic mutations in the PYGM gene. Timely diagnosis can sometimes be difficult with direct genomic analysis, which requires additional studies of cDNA from muscle transcripts. Although the "nonsense-mediated mRNA decay" (NMD) eliminates tissue-specific aberrant transcripts, there is some residual transcription of tissue-specific genes in virtually all cells, such as peripheral blood mononuclear cells (PBMCs). Read More

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http://dx.doi.org/10.1038/gim.2015.219DOI Listing
November 2016
20 Reads

Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.

Neuromuscul Disord 2016 09 28;26(9):584-92. Epub 2016 Jun 28.

Institut de Myologie, APHP - GH Pitié-Salpêtrière, Bd de l'Hôpital, Paris 75651 Cedex 13, France.

Glycogen storage disease type III is an inherited metabolic disorder characterized by liver and muscle impairment. This study aimed to identify promising muscle function measures for future studies on natural disease progression and therapeutic trials. The age-effect on the manual muscle testing (MMT), the hand-held dynamometry (HHD), the motor function measure (MFM) and the Purdue pegboard test was evaluated by regression analysis in a cross-sectional retrospective single site study. Read More

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http://dx.doi.org/10.1016/j.nmd.2016.06.460DOI Listing
September 2016
101 Reads

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.

JIMD Rep 2016 26;30:89-94. Epub 2016 Jun 26.

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

Deficiency of glycogen branching enzyme in glycogen storage disease type IV (GSD IV) results in accumulation of less-branched and poorly soluble polysaccharides (polyglucosan bodies) in multiple tissues. Standard enzymatic method, when used to quantify glycogen content in GSD IV tissues, causes significant loss of the polysaccharides during preparation of tissue lysates. We report a modified method including an extra boiling step to dissolve the insoluble glycogen, ultimately preserving the glycogen content in tissue homogenates from GSD IV mice. Read More

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http://dx.doi.org/10.1007/8904_2015_522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110445PMC
June 2016
19 Reads

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

JIMD Rep 2017 4;31:79-83. Epub 2016 May 4.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center (DUMC), Box 103856, Durham, NC, 27710, USA.

Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII).We present a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary hyperparathyroidism. Read More

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http://dx.doi.org/10.1007/8904_2016_563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388642PMC
May 2016
29 Reads

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

J Inherit Metab Dis 2016 09 22;39(5):697-704. Epub 2016 Apr 22.

Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands.

Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Patients with GSDIIIa show involvement of liver and cardiac/skeletal muscle, whereas GSDIIIb patients display only liver symptoms and signs. The International Study on Glycogen Storage Disease (ISGSDIII) is a descriptive retrospective, international, multi-centre cohort study of diagnosis, genotype, management, clinical course and outcome of 175 patients from 147 families (86 % GSDIIIa; 14 % GSDIIIb), with follow-up into adulthood in 91 patients. Read More

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http://dx.doi.org/10.1007/s10545-016-9932-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987401PMC
September 2016
38 Reads

Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations.

Nat Commun 2016 Apr 18;7:11229. Epub 2016 Apr 18.

Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

Glycogen is a branched glucose polymer and serves as an important energy store. Its debranching is a critical step in its mobilization. In animals and fungi, the 170 kDa glycogen debranching enzyme (GDE) catalyses this reaction. Read More

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http://dx.doi.org/10.1038/ncomms11229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4837477PMC
April 2016
15 Reads

Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

J Hum Genet 2016 Jul 17;61(7):641-5. Epub 2016 Mar 17.

McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medcine, Peking Union Medical College, Beijing, China.

Glycogen storage disease type III (GSD III), a rare autosomal recessive disease characterized by hepatomegaly, fasting hypoglycemia, growth retardation, progressive myopathy and cardiomyopathy, is caused by deficiency of the glycogen debranching enzyme (AGL). Direct sequencing of human AGL cDNA and genomic DNA has enabled analysis of the underlying genetic defects responsible for GSD III. To date, the frequent mutations in different areas and populations have been described in Italy, Japan, Faroe Islands and Mediterranean area, whereas little has been performed in Chinese population. Read More

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http://dx.doi.org/10.1038/jhg.2016.24DOI Listing
July 2016
7 Reads

Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis.

Bone 2016 May 23;86:79-85. Epub 2016 Feb 23.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy. Electronic address:

Introduction: Glycogen storage disease type III (GSDIII) is an inborn error of carbohydrate metabolism caused by deficient activity of glycogen debranching enzyme (GDE). It is characterized by liver, cardiac muscle and skeletal muscle involvement. The presence of systemic complications such as growth retardation, ovarian polycystosis, diabetes mellitus and osteopenia/osteoporosis has been reported. Read More

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http://dx.doi.org/10.1016/j.bone.2016.02.012DOI Listing
May 2016
31 Reads

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa.

Case Rep Genet 2016 17;2016:8154910. Epub 2016 Jan 17.

Center of Genetic Diseases, Emergency Children's Hospital, University of Medicine and Pharmacy, Motilor Street 68, 400370 Cluj, Romania.

Background. Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by deficiency of the glycogen debranching enzyme. There is a high phenotypic variability due to different mutations in the AGL gene. Read More

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http://downloads.hindawi.com/journals/crig/2016/8154910.pdf
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http://www.hindawi.com/journals/crig/2016/8154910/
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http://dx.doi.org/10.1155/2016/8154910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739001PMC
February 2016
12 Reads

Natural Progression of Canine Glycogen Storage Disease Type IIIa.

Comp Med 2016 Feb;66(1):41-51

Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.

Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of glycogen debranching enzyme activity. Hepatomegaly, muscle degeneration, and hypoglycemia occur in human patients at an early age. Long-term complications include liver cirrhosis, hepatic adenomas, and generalized myopathy. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752035PMC
February 2016
17 Reads

Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China.

J Hum Genet 2016 Apr 7;61(4):345-9. Epub 2016 Jan 7.

Paediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Lysosomal storage disorders (LSDs) are a group of >50 different types of inherited metabolic disorders that result from defects in the lysosome. The aim of this study was to investigate the distribution and demographic characteristics of the different subtypes of LSDs in Eastern China. From 2006 to 2012, 376 out of 1331 clinically suspected patients were diagnosed with 17 different subtypes of LSDs at our hospital. Read More

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http://dx.doi.org/10.1038/jhg.2015.155DOI Listing
April 2016
8 Reads

History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation.

Mitochondrial DNA A DNA Mapp Seq Anal 2016 09 24;27(5):3194-8. Epub 2015 Dec 24.

a Institut Pasteur de Tunis, Laboratoire de Genomique Biomedicale et Oncogenetique LR11IPT05 , Tunis , Tunisia .

Glycogen storage disease type III (GSD III; Cori disease; Forbes disease) is an autosomal recessive inherited metabolic disorder resulting from deficient glycogen debrancher enzyme activity in liver and muscle. In this study, we focused on a single AGL gene mutation p.W1327X in 16 Tunisian patients from rural area surrounding the region of Mahdia in Central Tunisia. Read More

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http://dx.doi.org/10.3109/19401736.2015.1007331DOI Listing
September 2016
47 Reads

Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease.

J Gastrointestin Liver Dis 2015 Dec;24(4):515-8

Department of Gastroenterology and Hepatology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.

Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by accumulation of abnormal glycogen in muscle or liver or both. Specific hepatic complications include liver adenomas and hepatocellular carcinoma (HCC). Hepatocellular carcinomas described in GSD type I are often due to the degeneration of liver adenomas. Read More

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http://dx.doi.org/10.15403/jgld.2014.1121.244.hadDOI Listing
December 2015
2 Reads

Metabolic phenotype and adipose and liver features in a high-fat Western diet-induced mouse model of obesity-linked NAFLD.

Am J Physiol Endocrinol Metab 2016 Mar 15;310(6):E418-39. Epub 2015 Dec 15.

Department of Nutrition, Auburn University, Auburn, Alabama; Boshell Metabolic Diseases and Diabetes Program, Auburn University, Auburn, Alabama; Bassett Research Institute, Bassett Medical Center, Cooperstown, New York;

nonalcoholic fatty liver disease (NAFLD), an obesity and insulin resistance associated clinical condition - ranges from simple steatosis to nonalcoholic steatohepatitis. To model the human condition, a high-fat Western diet that includes liquid sugar consumption has been used in mice. Even though liver pathophysiology has been well characterized in the model, little is known about the metabolic phenotype (e. Read More

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http://dx.doi.org/10.1152/ajpendo.00319.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4796265PMC
March 2016
51 Reads

Lens opacities in glycogenoses type I and III.

Can J Ophthalmol 2015 Dec;50(6):480-4

Eye Clinic, San Paolo Hospital, University of Milan, Milan.

Objective: The glycogen storage diseases (GSD) or glycogenoses comprise several inherited diseases caused by abnormalities of the enzymes that regulate the synthesis or degradation of glycogen. This report presents lens opacities not previously described in patients with type I or III GSD.

Participants: Eleven patients with type I and III GSD. Read More

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http://dx.doi.org/10.1016/j.jcjo.2015.08.008DOI Listing
December 2015
9 Reads

Peripheral neuropathy in glycogen storage disease type III: Fact or myth?

Muscle Nerve 2016 Feb 29;53(2):310-2. Epub 2015 Dec 29.

AP-HP, G-H Pitié-Salpêtrière, Institut de Myologie, centre de référence des maladies neuromusculaires Paris Est, 75013, Paris, France.

Introduction: The aim of this study was to assess whether peripheral neuropathy is a feature of glycogen storage disease type IIIa (GSD IIIa) in adult patients.

Methods: Medical records of a cohort of adult GSD IIIa patients who underwent electromyography (EMG) and nerve conduction studies (NCS) were reviewed, and the results were correlated with physical examination findings.

Results: Sixteen patients underwent EMG and NCS; 4 complained of exercise intolerance, 1 of foot paresthesia, and 11 of muscle weakness (3 proximal, 8 distal). Read More

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http://dx.doi.org/10.1002/mus.24977DOI Listing
February 2016
10 Reads

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

Med Sci Sports Exerc 2016 Apr;48(4):673-9

1Translational Research Laboratoy in Neuromuscular Diseases, Neurosciences Department, Germans Trias i Pujol Research Institute and Campus Can Ruti, Autonomous University of Barcelona, Badalona, SPAIN; 2Sports Sciences and Computing Department, Pablo de Olavide University, Sevilla, SPAIN; 312 de Octubre Hospital Research Institute (i + 12), Madrid, SPAIN; 4Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital, Madrid, SPAIN; 5Centre for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, Madrid, SPAIN; 6Centre for Sports Medicine and Human Performance, Brunel University, London, UNITED KINGDOM; 7Neuromuscular and Mitochondrial Pathology Department, Vall d'Hebron University Hospital, Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, SPAIN; 8Rare Diseases Unit, Pediatric Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; 9Neuromuscular Unit Neurology Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; and 10School of Research and Doctorate Studies, European University, Madrid, SPAIN.

McArdle disease is due to an inborn defect in the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), the enzyme that catalyzes the first step of glycogenolysis. This condition is still not fully understood, and although advances in research would help patients immeasurably, these would also enhance our understanding of exercise metabolism. It has been 10 yr since the first published report demonstrating the benefits of regular aerobic exercise for these patients. Read More

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http://dx.doi.org/10.1249/MSS.0000000000000812DOI Listing
April 2016
8 Reads

Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.

JIMD Rep 2016 3;28:41-47. Epub 2015 Nov 3.

Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 30 001, 9700 RB, Groningen, The Netherlands.

Background: According to the textbooks, the ketotic glycogen storage disease (GSD) types 0, III, VI, IX, and XI are associated with fasting ketotic hypoglycemia and considered milder as gluconeogenesis is intact.

Methods: A retrospective cohort study of biochemical profiles from supervised clinical fasting studies is performed in ketotic GSD patients in our metabolic center. For data analysis, hypoglycemia was defined as plasma glucose concentration <2. Read More

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_511
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http://link.springer.com/10.1007/8904_2015_511
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059202PMC
http://dx.doi.org/10.1007/8904_2015_511DOI Listing
November 2015
17 Reads

Genes and exercise intolerance: insights from McArdle disease.

Physiol Genomics 2016 Feb 13;48(2):93-100. Epub 2015 Oct 13.

Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; and Universidad Europea, Madrid, Spain.

McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeletal muscle-specific isoform of glycogen phosphorylase, "myophosphorylase," which is encoded by the PYGM gene. Here we review the main pathophysiological, genotypic, and phenotypic features of McArdle disease and their interactions. To date, moderate-intensity exercise (together with pre-exercise carbohydrate ingestion) is the only treatment option that has proven useful for these patients. Read More

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http://physiolgenomics.physiology.org/content/physiolgenomic
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http://physiolgenomics.physiology.org/lookup/doi/10.1152/phy
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http://dx.doi.org/10.1152/physiolgenomics.00076.2015DOI Listing
February 2016
11 Reads

Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III.

Ultrasound Med Biol 2016 Jan 3;42(1):133-42. Epub 2015 Oct 3.

Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands. Electronic address:

In glycogen storage diseases (GSDs), improved longevity has resulted in the need for neuromuscular surveillance. In 12 children and 14 adults with the "hepatic" (GSD-I) and "myopathic" (GSD-III) phenotypes, we cross-sectionally assessed muscle ultrasound density (MUD) and muscle force. Children with both "hepatic" and "myopathic" GSD phenotypes had elevated MUD values (MUD Z-scores: GSD-I > 2. Read More

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http://dx.doi.org/10.1016/j.ultrasmedbio.2015.08.013DOI Listing
January 2016
7 Reads

[Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2015 Aug;32(4):502-5

Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, P. R. China.

Objective: To investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD IIIa).

Methods: Clinical data for diagnosis, treatment and follow-up of a sick child with GSD III was collected and analyzed. Genomic DNA was extracted from the peripheral blood samples from the patient and his parents. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2015.04.011DOI Listing
August 2015
11 Reads