498 results match your criteria Glycogen Storage Disease Type III


[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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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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June 2018
1 Read

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

BMC Med Genet 2018 Apr 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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April 2018
1 Read

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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June 2018
10 Reads

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

Gynecol Endocrinol 2018 Mar 21:1-4. 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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March 2018
1 Read

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

Metabolism 2018 May 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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May 2018
1 Read

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

Mol Ther 2018 Mar 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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March 2018
11 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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December 2017
4 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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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 Mar 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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March 2018
8 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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November 2017
3 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
5 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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December 2017
2 Reads

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

Mol Genet Metab 2017 Nov 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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November 2017
12 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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August 2017
10 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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February 2018
10 Reads

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

J Inherit Metab Dis 2017 Sep 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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September 2017
7 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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June 2017
4 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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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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March 2017
24 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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November 2016
4 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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September 2016
29 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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June 2016
8 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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May 2016
9 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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September 2016
11 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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April 2016
4 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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July 2016
4 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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May 2016
8 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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February 2016
2 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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February 2016
6 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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April 2016
2 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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September 2016
14 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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December 2015
1 Read

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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March 2016
40 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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December 2015
2 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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February 2016
1 Read

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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April 2016
3 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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November 2015
6 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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February 2016
3 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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January 2016
3 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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August 2015
6 Reads

Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease.

Genet Med 2015 Aug;17(8):679-80

1] Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain [2] Universidad Europea, Madrid, Spain.

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August 2015
2 Reads

Minimal symptoms in McArdle disease: A real PYGM genotype effect?

Muscle Nerve 2015 Dec 24;52(6):1136-7. Epub 2015 Sep 24.

Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol I Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain.

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December 2015
16 Reads

Preclinical Development of New Therapy for Glycogen Storage Diseases.

Curr Gene Ther 2015 ;15(4):338-47

Box 103856, Duke University Medical Center, Durham, NC 27710.

Glycogen storage disease (GSD) consists of more than 10 discrete conditions for which the biochemical and genetic bases have been determined, and new therapies have been under development for several of these conditions. Gene therapy research has generated proof-of-concept for GSD types I (von Gierke disease) and II (Pompe disease). Key features of these gene therapy strategies include the choice of vector and regulatory cassette, and recently adeno-associated virus (AAV) vectors containing tissue-specific promoters have achieved a high degree of efficacy. Read More

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June 2016
1 Read

Pathological characteristics of glycogen storage disease III in skeletal muscle.

J Clin Neurosci 2015 Oct 9;22(10):1674-5. Epub 2015 Jun 9.

Department of Anatomic Pathology, Cleveland Clinic, Level 25, 9500 Euclid Avenue, Cleveland, OH 44195, USA. Electronic address:

We report a 25-year-old man with glycogenosis III who presented with a progressive 2 year history of fatigue, hand stiffness and cramping. The glycogenoses are a group of rare metabolic disorders which develop as a result of deficiencies in various enzymes involved in the metabolism of glycogen. Some, but not all, glycogenoses, may result in skeletal muscle pathology. Read More

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October 2015
2 Reads

Hepatic glycogen storage disorders: what have we learned in recent years?

Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):415-21

aDivision of Metabolism and Children's Research Center, University Children's Hospital bDivision of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich cradiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland.

Purpose Of Review: Glycogen storage disorders (GSDs) are inborn errors of metabolism with abnormal storage or utilization of glycogen. The present review focuses on recent advances in hepatic GSD types I, III and VI/IX, with emphasis on clinical aspects and treatment.

Recent Findings: Evidence accumulates that poor metabolic control is a risk factor for the development of long-term complications, such as liver adenomas, low bone density/osteoporosis, and kidney disease in GSD I. Read More

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July 2015
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Lessons from two cases: is Fabry disease the correct diagnosis?

BMJ Case Rep 2015 May 12;2015. Epub 2015 May 12.

Department of Pediatrics, Division of Nutrition and Metabolism, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.

Fabry disease (FD) is an X linked inherited lysosomal storage disorder with complex multisystem involvement; it is caused by deficiency of the lysosomal enzyme α-galactosidase. Deficient enzyme activity leads to a wide spectrum of clinical manifestations consisting of dermatological, ophthalmological, cardiovascular, and urinary and central nervous system findings. As a result, FD should be considered in the differential diagnosis of many systemic diseases. Read More

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May 2015
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Skeletal and cardiac muscle involvement in children with glycogen storage disease type III.

Eur J Pediatr 2015 Nov 7;174(11):1545-8. Epub 2015 May 7.

Department of Pediatrics, Kasr Alainy Medical School, Cairo University, Cairo, Egypt.

Unlabelled: Glycogen storage disease type III (GSD III) may present with hepatic disease or may involve both skeletal and cardiac muscles as well. To assess the prevalence of neuromuscular and cardiac involvement in a group of children with GSD III, 28 children with GSD III, diagnosed by enzymatic assay, were enrolled in the study after an informed consent was obtained from their parents/guardians and after the study protocol was approved by our institutional ethical committee. Their mean age was 6. Read More

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November 2015
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McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

Hum Mutat 2015 Jul 3;36(7):669-78. Epub 2015 Jun 3.

Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR), , Universitat Autónoma de Barcelona, Barcelona, Spain.

McArdle disease is an autosomal-recessive disorder caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), which catalyzes the first step of glycogen catabolism, releasing glucose-1-phosphate from glycogen deposits. As a result, muscle metabolism is impaired, leading to different degrees of exercise intolerance. Patients range from asymptomatic to severely affected, including in some cases, limitations in activities of daily living. Read More

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July 2015
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