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    477 results match your criteria Glycogen Storage Disease Type III

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    A new variant in PHKA2 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 PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation Sequencing (NGS). Read More

    Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.
    Neuromuscul Disord 2016 Sep 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

    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

    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

    Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
    J Inherit Metab Dis 2016 Sep 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

    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

    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

    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

    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

    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

    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 Sep 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

    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

    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

    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

    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

    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

    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

    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

    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

    [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

    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

    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

    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

    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

    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

    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

    Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.
    J Physiol 2015 Jun 18;593(12):2693-706. Epub 2015 May 18.
    Neuromuscular and Mitochondrial Disorders Laboratory, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Key Points: This is the first study to analyse the effect of muscle glycogen phosphorylase depletion in metabolically different muscle types. In McArdle mice, muscle glycogen phosphorylase is absent in both oxidative and glycolytic muscles. In McArdle mice, the glycogen debranching enzyme (catabolic) is increased in oxidative muscles, whereas the glycogen branching enzyme (anabolic) is increased in glycolytic muscles. Read More

    Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III.
    Neurology 2015 Apr 1;84(17):1767-71. Epub 2015 Apr 1.
    From the Neuromuscular Research Unit, Department of Neurology (N.P., K.L.M., K.P.P., G.H., C.R.V., J.V.), and the Department of Inflammation Research (H.G.), Rigshospitalet, University of Copenhagen, Denmark; and the Centre de Référence de Pathologie Neuromusculaire Paris-Est (P.L.), Institut de Myologie, GH Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
    Objective: Glycogen storage disease type IIIa (GSDIIIa) is classically regarded as a glycogenosis with fixed weakness, but we hypothesized that exercise intolerance in GSDIIIa is related to muscle energy failure and that oral fructose ingestion could improve exercise tolerance in this metabolic myopathy.

    Methods: We challenged metabolism with cycle-ergometer exercise and measured substrate turnover and oxidation rates using stable isotope methodology and indirect calorimetry in 3 patients and 6 age-matched controls on 1 day, and examined the effect of fructose ingestion on exercise tolerance in the patients on another day.

    Results: Total fatty acid oxidation rates during exercise were higher in patients than controls, 32. Read More

    A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
    Ann Saudi Med 2014 Sep-Oct;34(5):390-5
    Sulman Basit PhD, Center for Genetics and Inherited Diseases, Taibah University Al Madinah Al Munawarah, Saudi Arabia, T: +966-535370209,
    Background And Objectives: Glycogen storage disease type 3 (GSD III) is an autosomal recessive disorder caused by genetic mutations in the gene AGL. AGL encodes amylo-a-1, 6-glucosidase, 4-a-glucanotransferase, a glycogen debranching enzyme. GSD III is characterized by fasting hypoglycemia, hepatomegaly, growth retardation, progressive myopathy, and cardiomyopathy due to storage of abnormally structured glycogen in both skeletal and cardiac muscles and/or liver. Read More

    Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.
    Eur J Neurol 2015 Jun 5;22(6):933-40. Epub 2015 Mar 5.
    Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
    Background And Purpose: This was a retrospective study to assess the diagnostic value of the non-ischaemic forearm exercise test in detecting McArdle's disease.

    Methods: The study is a retrospective diagnostic study over 15 years (1999-2013) on a referred sample of patients suffering from exercise intolerance and various muscle complaints, generally with elevated creatine kinase (CK). In all, 1226 patients underwent the non-ischaemic forearm exercise test. Read More

    A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
    CMAJ 2015 Feb 19;187(2):E68-73. Epub 2015 Jan 19.
    Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children's Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children's Hospital, McGill University Health Centre, Montréal, Que.; Department of Pediatrics and Child Health (Rodd), Winnipeg, Man.
    Background: Glycogen storage disease type III is caused by mutations in both alleles of the AGL gene, which leads to reduced activity of glycogen-debranching enzyme. The clinical picture encompasses hypoglycemia, with glycogen accumulation leading to hepatomegaly and muscle involvement (skeletal and cardiac). We sought to identify the genetic cause of this disease within the Inuit community of Nunavik, in whom previous DNA sequencing had not identified such mutations. Read More

    Does type I truly dominate hepatic glycogen storage diseases in Korea?: a single center study.
    Pediatr Gastroenterol Hepatol Nutr 2014 Dec 31;17(4):239-47. Epub 2014 Dec 31.
    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
    Purpose: There are no studies of hepatic glycogen storage diseases (GSDs) other than type I and III in Korea. We aimed on investigating the characteristics of hepatic GSDs in Korea diagnosed and followed at a single center.

    Methods: We retrospectively analyzed patients who were diagnosed as GSD and followed at Samsung Medical Center from January, 1997 to December, 2013. Read More

    [Mitochondrial dysfunction in children with hepatic forms of glycogen storage disease].
    Vestn Ross Akad Med Nauk 2014 (7-8):78-84
    Aim: The purpose of the study was to assess mitochondrial dysfunction severity in patients with hepatic forms of glycogen storage disease (GSD).

    Patients And Methods: We examined 53 children with GSD in the dynamics. Distribution of children by disease types was: 1st group--children with GSD type I, 2nd group--children with GSD type III, 3rd group--children with GSD type VI and IX; comparison group consisted of 34 healthy children. Read More

    Straightforward method to quantify GSH, GSSG, GRP, and hydroxycinnamic acids in wines by UPLC-MRM-MS.
    J Agric Food Chem 2015 Jan;63(1):142-9
    A novel, robust and fast ultrahigh performance liquid chromatography–multiple reaction monitoring mass spectrometry method has been developed for the simultaneous quantification of reduced glutathione (GSH), oxidized glutathione (GSSG), grape reaction product (GRP) and hydroxycinnamic acids in wine. The method was evaluated in terms of linearity, precision, accuracy, limits of detection and quantification, stability and matrix effects. Quantitative recovery (74–110%) and satisfactory interday precision (RSD <14%) were achieved for all target compounds. Read More

    Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.
    Clin Chim Acta 2015 Jan 23;439:162-7. Epub 2014 Oct 23.
    Department of Pediatric Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey.
    Background: Glycogen storage disease type III (GSD III; MIM #232400) is an autosomal recessive inherited disorder characterized by fasting hypoglycemia, growth retardation, hepatomegaly, progressive myopathy, and cardiomyopathy. GSD III is caused by deficiency in the glycogen debranching enzyme (gene symbol: AGL). Molecular analyses of AGL have indicated heterogeneity depending on ethnic groups. Read More

    Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.
    Biochem Biophys Res Commun 2014 Dec;455(1-2):90-7
    We studied two patients from a nonconsanguineous family with life-long abnormal liver function, hepatomegaly and abnormal fatty acid profiles. Abnormal liver function, hypoglycemia and muscle weakness are observed in various genetic diseases, including medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and glycogen storage diseases. The proband showed increased free fatty acids, mainly C8 and C10, resembling fatty acid oxidation disorder. Read More

    Glycogen storage disease type III: modified Atkins diet improves myopathy.
    Orphanet J Rare Dis 2014 Nov 28;9:196. Epub 2014 Nov 28.
    Clinic for Paediatric Kidney-, Liver and Metabolic Diseases, Carl-Neuberg-Str.1, D-30625, Hannover, Germany.
    Background: Frequent feeds with carbohydrate-rich meals or continuous enteral feeding has been the therapy of choice in glycogen storage disease (Glycogenosis) type III. Recent guidelines on diagnosis and management recommend frequent feedings with high complex carbohydrates or cornstarch avoiding fasting in children, while in adults a low-carb-high-protein-diet is recommended. While this regimen can prevent hypoglycaemia in children it does not improve skeletal and heart muscle function, which are compromised in patients with glycogenosis IIIa. Read More

    [Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme].
    Rev Neurol 2014 Dec;59(11):503-7
    Hospital Regional Universitario de Malaga, Malaga, Espana.
    Introduction: Pompe disease/glycogen storage disease type II is a congenital metabolic disorder. It is an autosomal recessive disease where there is a deficiency of acid alpha-glucosidase (GAA), an enzyme required for lysosomal glycogen degradation. We describe two infantile onset cases with heterogeneous presentations. Read More

    Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.
    J Inherit Metab Dis 2015 May 12;38(3):573-80. Epub 2014 Nov 12.
    APHP, Groupe Hospitalier Pitié-Salpêtrière, Centre de Référence des Pathologies Neuromusculaires Paris-Est, Institut de Myologie, 83 boulevard de l'Hôpital, 75680, Paris CEDEX 13, France,
    Background: Glycogen storage disease type III (GSDIII) is a rare autosomal recessive disorder due to glycogen debranching enzyme (GDE) deficiency. It results in a multisystemic disease with predominant hepatic and myopathic symptoms. While frequent social maladjustment has been observed in our clinical practice, cognitive and psychological disturbances have never been assessed. Read More

    Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III.
    JIMD Rep 2014 12;17:91-5. Epub 2014 Oct 12.
    Department of Pediatrics, San Gerardo Hospital, University of Milano Bicocca, Monza, Italy.
    Glycogenosis type III (GSD III) is an autosomal recessive disorder due to amylo-1,6-glucosidase deficiency. This disease causes limit dextrin storage in affected tissues: liver, skeletal muscles, and heart in GSD IIIa and only liver in GSD IIIb. Cardiomyopathy is quite frequent in GSD IIIa with variable severity and progression of manifestations. Read More

    Dietary management in glycogen storage disease type III: what is the evidence?
    J Inherit Metab Dis 2015 May 28;38(3):545-50. Epub 2014 Aug 28.
    Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands,
    In childhood, GSD type III causes relatively severe fasting intolerance, classically associated with ketotic hypoglycaemia. During follow up, history of (documented) hypoglycaemia, clinical parameters (growth, liver size, motor development, neuromuscular parameters), laboratory parameters (glucose, lactate, ALAT, cholesterol, triglycerides, creatine kinase and ketones) and cardiac parameters all need to be integrated in order to titrate dietary management, for which age-dependent requirements need to be taken into account. Evidence from case studies and small cohort studies in both children and adults with GSD III demonstrate that prevention of hypoglycaemia and maintenance of euglycemia is not sufficient to prevent complications. Read More

    The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III.
    J Pediatr Endocrinol Metab 2015 Jan;28(1-2):195-200
    Aim: To determine the individual fasting tolerance for patients with glycogen storage disease type III (GSD III) and to assess their linear growth velocity after tailoring of dose intervals of oral uncooked cornstarch.

    Patients And Methods: A prospective cohort study included 32 patients with GSD III aged 6 months-11.5 years (median: 3. Read More

    Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study.
    Arab J Gastroenterol 2014 Jun 12;15(2):63-7. Epub 2014 Feb 12.
    Department of Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
    Background And Study Aims: Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen debrancher enzyme and is characterised by clinical variability.

    Patients And Methods: We herein describe the clinical and laboratory findings in 31 Egyptian patients with GSD III presenting to the Paediatric Hepatology Unit, Cairo University, Egypt.

    Results: Eighteen patients (58%) were males. Read More

    Glycogen storage disease type III: A novel Agl knockout mouse model.
    Biochim Biophys Acta 2014 Nov 1;1842(11):2318-28. Epub 2014 Aug 1.
    Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:
    Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL. Essential features of this disease are hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Progressive skeletal myopathy, neuropathy, and/or cardiomyopathy become prominent in adults. Read More

    Are evoked potentials in patients with adult-onset pompe disease indicative of clinically relevant central nervous system involvement?
    J Clin Neurophysiol 2014 Aug;31(4):362-6
    *Friedrich-Baur-Institute, Department of Neurology, and †Department of Neuropediatrics, Ludwig-Maximilians University of Munich, Munich, Germany.
    Purpose: Pompe disease is a multisystem autosomal recessive glycogen storage disease. Autoptic findings in patients with classic infantile and late-onset Pompe disease have proven that accumulation of glycogen can also be found in the peripheral and central nervous system. To assess the functional role of these pathologic findings, multimodal sensory evoked potentials were analyzed. Read More

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