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    1642 results match your criteria Glycogen Storage Disease Type II Pompe Disease

    1 OF 33

    Critical Airway Stenosis in an Adolescent Male With Pompe Disease and Thoracic Lordosis: A Case Report.
    A A Case Rep 2017 May 23. Epub 2017 May 23.
    From the Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
    An adolescent male with late-onset Pompe disease (glycogen storage disease type II) presented with a history of restrictive airway disease and a near-cardiorespiratory arrest during anesthesia for a liver biopsy initially thought to be due to bronchospasm. During a subsequent posterior spinal fusion procedure, he suffered cardiorespiratory arrest resulting in the procedure being aborted. Bronchoscopy performed shortly after resuscitation revealed an undiagnosed narrowing of the distal trachea and bronchi. Read More

    Glycogen synthesis in glycogenin 1 deficient patients; a role for glycogenin 2 in muscle.
    J Clin Endocrinol Metab 2017 Apr 27. Epub 2017 Apr 27.
    Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
    Context: Glycogen storage disease type XV (GSD XV) is a rare disease caused by mutations in the GYG1 gene that codes for the core molecule of muscle glycogen, glycogenin 1. Nonetheless, glycogen is present in muscles of glycogenin 1 deficient patients, suggesting an alternative for glycogen build-up. A likely candidate is glycogenin 2, an isoform expressed in liver and heart, but not in healthy skeletal muscle. Read More

    Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.
    Genet Test Mol Biomarkers 2017 Apr 10. Epub 2017 Apr 10.
    1 Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine , Shanghai, China .
    Aims: We sought to understand the clinical course and molecular defects of infantile-onset Pompe disease (IOPD) among mainland Chinese patients.

    Materials And Methods: Twenty-five Chinese patients with IOPD were enrolled and clinical data were retrospectively reviewed. The entire coding region of the GAA gene was amplified by polymerase chain reaction and analyzed by direct sequencing. Read More

    Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function.
    J Immunol 2017 May 7;198(10):3803-3808. Epub 2017 Apr 7.
    Laboratorio di Immunologia, Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale delle Ricerche, 80131 Naples, Italy;
    Glycogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucose-6-phosphate transporter and characterized by altered glycogen/glucose homeostasis. A higher frequency of autoimmune diseases has been observed in GSD-1b patients, but the molecular determinants leading to this phenomenon remain unknown. To address this question, we investigated the effect of glucose-6-phosphate transporter mutation on immune cell homeostasis and CD4(+) T cell functions. Read More

    Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction.
    Mol Ther Methods Clin Dev 2017 Mar 11;4:126-136. Epub 2017 Jan 11.
    Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA; Department of Molecular Genetics and Microbiology, Duke University, Durham, NC 27710, USA.
    Pompe disease results from acid α-glucosidase (GAA) deficiency, and enzyme replacement therapy (ERT) with recombinant human (rh) GAA has clinical benefits, although its limitations include the short half-life of GAA and the formation of antibody responses. The present study compared the efficacy of ERT against gene transfer with an adeno-associated viral (AAV) vector containing a liver-specific promoter. GAA knockout (KO) mice were administered either a weekly injection of rhGAA (20 mg/kg) or a single injection of AAV2/8-LSPhGAA (8 × 10(11) vector genomes [vg]/kg). Read More

    Alglucosidase alfa therapy for Pompe disease in pregnancy - Case report.
    J Neurol Sci 2017 Apr 26;375:167-169. Epub 2017 Jan 26.
    Department of Neurology, COPERNICUS Podmiot Leczniczy Sp. z o.o. Szpital św. Wojciecha, Al. Jana Pawła II 50, 80-462 Gdańsk, Poland; Department of Neurological and Psychiatric Nursing, Medical University of Gdańsk, ul. Dębinki 7, 80-952 Gdańsk, Poland.

    Cardiac manifestations of inherited metabolic disease in children.
    Pediatr Int 2017 May;59(5):525-529
    Department of Congenital Heart Disease, Evelina Children's Hospital, London, UK.
    Inborn errors of metabolism (IEM) are responsible for around 5% of all cases of cardiomyopathy (CM) and for 15% of non-idiopathic cases. Storage disorders such as Pompe disease (glycogen storage disease type II) typically cause hypertrophic CM, whereas the accumulation of toxic metabolites, as seen in the organic acidurias, is associated with dilated cardiomyopathy (DCM). Mixed pathology is also possible, particularly in late presentations. Read More

    The emerging phenotype of late-onset Pompe disease: A systematic literature review.
    Mol Genet Metab 2017 Mar 11;120(3):163-172. Epub 2016 Dec 11.
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:
    Background: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primarily in skeletal, cardiac, and smooth muscles, causing weakness of the proximal limb girdle and respiratory muscles. However, increased scientific study of LOPD continues to enhance understanding of an evolving phenotype. Read More

    Autophagy dysregulation in Danon disease.
    Cell Death Dis 2017 Jan 19;8(1):e2565. Epub 2017 Jan 19.
    Venetian Institute of Molecular Medicine, Padova, Italy.
    The autophagy-lysosome system is critical for muscle homeostasis and defects in lysosomal function result in a number of inherited muscle diseases, generally referred to as autophagic vacuolar myopathies (AVMs). Among them, Danon Disease (DD) and glycogen storage disease type II (GSDII) are due to primary lysosomal protein defects. DD is characterized by mutations in the lysosome-associated membrane protein 2 (LAMP2) gene. Read More

    Disruption of the gaa Gene in Zebrafish Fails to Generate the Phenotype of Classical Pompe Disease.
    DNA Cell Biol 2017 Jan;36(1):10-17
    1 Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University , Shanghai, China .
    The underlying pathogenic lesions of glycogen storage disease type II (GSD II) and the diversity of this disease among different species are still under exploration. Thus, we created an acid alpha-glucosidase (gaa) gene-mutated zebrafish model of GSD II and examined the sequential pathogenic changes. gaa mRNA and protein expression, enzymatic activity, and lysosomal glycogen accumulation were assessed, and the phenotypic changes were compared between wild-type (WT) and gaa-mutated zebrafish. Read More

    New mutations and genotype-phenotype correlation in late-onset Pompe patients.
    Acta Neurol Belg 2017 Mar 28;117(1):269-275. Epub 2016 Dec 28.
    Neurology Department, School of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey.
    Pompe disease is a glycogen storage disease caused by acid alfa-glucosidase deficiency. Here, we report clinical properties, genetic features of our late-onset Pompe patients. Seven patients were followed during the last 10 years in our institute. Read More

    Quantification of muscle pathology in infantile Pompe disease.
    Neuromuscul Disord 2017 Feb 3;27(2):141-152. Epub 2016 Nov 3.
    Department of Child Neurology, Justus Liebig University, Gießen, Germany.
    The effects of enzyme replacement therapy (ERT) in infantile Pompe disease are variable, necessitating the identification of biomarkers to assess the severity of disease and response to ERT. The aims of this study were to investigate whether quantification of muscle pathology in infantile Pompe disease prior to and during ERT is feasible at the light microscope, and to develop a score that summarizes the degree of muscle pathology in a comprehensive manner from PAS-stained resin sections alone. We, therefore, determined glycogen load, extent of muscle fibre disruption, and amount of autophagic vacuoles in resin-embedded muscle biopsy specimens from 11 infantile Pompe patients and 2 with early childhood phenotype by quantitative methods, correlated the findings with ultrastructural analyses, compared PAS-stained resin sections with conventional PAS-stained cryosections, and related the quantified degree of muscle damage from infantile patients to the effects of ERT. Read More

    Vaccination via Chloroplast Genetics: Affordable Protein Drugs for the Prevention and Treatment of Inherited or Infectious Human Diseases.
    Annu Rev Genet 2016 Nov 21;50:595-618. Epub 2016 Oct 21.
    Department of Biochemistry, School of Dental Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104; email:
    Plastid-made biopharmaceuticals treat major metabolic or genetic disorders, including Alzheimer's, diabetes, hypertension, hemophilia, and retinopathy. Booster vaccines made in chloroplasts prevent global infectious diseases, such as tuberculosis, malaria, cholera, and polio, and biological threats, such as anthrax and plague. Recent advances in this field include commercial-scale production of human therapeutic proteins in FDA-approved cGMP facilities, development of tags to deliver protein drugs to targeted human cells or tissues, methods to deliver precise doses, and long-term stability of protein drugs at ambient temperature, maintaining their efficacy. Read More

    Reveglucosidase alfa (BMN 701), an IGF2-Tagged rhAcid α-Glucosidase, Improves Respiratory Functional Parameters in a Murine Model of Pompe Disease.
    J Pharmacol Exp Ther 2017 Feb 16;360(2):313-323. Epub 2016 Nov 16.
    BioMarin Pharmaceutical Inc., Novato, California (J.P., K.T., P.H., R.C., S.Z., C.A.O., L.S.T.); MPI Research, Mattawan, Michigan (J.D.); Tox Path Specialists, LLC, Frederick, Maryland (M.B.); UltraGenyx Pharmaceutical Inc., Novato, California (D.K.).
    Pompe disease is a rare neuromuscular disorder caused by an acid α-glucosidase (GAA) deficiency resulting in glycogen accumulation in muscle, leading to myopathy and respiratory weakness. Reveglucosidase alfa (BMN 701) is an insulin-like growth factor 2-tagged recombinant human acid GAA (rhGAA) that enhances rhGAA cellular uptake via a glycosylation-independent insulin-like growth factor 2 binding region of the cation-independent mannose-6-phosphate receptor (CI-MPR). The studies presented here evaluated the effects of Reveglucosidase alfa treatment on glycogen clearance in muscle relative to rhGAA, as well as changes in respiratory function and glycogen clearance in respiratory-related tissue in a Pompe mouse model (GAA(tm1Rabn)/J). Read More

    Transfer of Therapeutic Genes into Fetal Rhesus Monkeys Using Recombinant Adeno-Associated Type I Viral Vectors.
    Hum Gene Ther Clin Dev 2016 Dec;27(4):152-159
    1 Powell Gene Therapy Center and Departments of Molecular Genetics and Microbiology and Pediatrics, University of Florida College of Medicine , Gainesville, Florida.
    Neuromuscular disorders such as Pompe disease (glycogen storage disease, type II), result in early and potentially irreversible cellular damage with a very limited opportunity for intervention in the newborn period. Pompe disease is due to deficiency in acid α-glucosidase (GAA) leading to lysosomal accumulation of glycogen in all cell types, abnormal myofibrillogenesis, respiratory insufficiency, neurological deficits, and reduced contractile function in striated muscle. Previous studies have shown that fetal delivery of recombinant adeno-associated virus (rAAV) encoding GAA to the peritoneal cavity of Gaa(-/-) mice resulted in high-level transduction of the diaphragm. Read More

    [Clinical observation on human alpha glucosidase in treatment of five patients with glycogen storage disease Ⅱ].
    Zhonghua Er Ke Za Zhi 2016 Nov;54(11):829-833
    Pediatric Intensive Care Unit, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China.
    Objective: To evaluate the effect of enzyme replacement therapy (ERT) on glycogen storage disease typeⅡ(GSDⅡ). Method: The clinical data of three juvenile onset and two infant onset GSDⅡpatients were collected from First Affiliated Hospital of Sun Yat-sen University in October 2015 to July 2016.Patient 1 was female, the age of onset was 15 months. Read More

    Combination of acid phosphatase positivity and rimmed vacuoles as useful markers in the diagnosis of adult-onset Pompe disease lacking specific clinical and pathological features.
    Folia Neuropathol 2016 ;54(3):295-302
    Françoise Chapon, Department of Pathology and Neuromuscular Competence Center, University Hospital of Caen, Rochambelles St., 13032 CAEN, France, phone: 33675211653, fax: 33231065063, e-mail:
    Introduction: The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care. The aim of our study was to investigate the presence of rimmed vacuoles and acid phosphatase positivity in muscle biopsies of patients with late-onset Pompe disease. Read More

    Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.
    Int J Mol Sci 2016 Oct 17;17(10). Epub 2016 Oct 17.
    Department of Pulmonology, University Hospital of Cattinara, Trieste 34149, Italy.
    Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Read More

    The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
    J Hum Genet 2017 Feb 6;62(2):243-252. Epub 2016 Oct 6.
    Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.
    The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families affected by LGMD were recruited using an institutionally approved protocol. Exome sequencing was performed on probands and selected parental samples. Read More

    Drug induced exocytosis of glycogen in Pompe disease.
    Biochem Biophys Res Commun 2016 Oct 28;479(4):721-727. Epub 2016 Sep 28.
    Mechanisms in Cell Biology and Diseases Research Group, School of Pharmacy and Medical Science, Division of Health Sciences, University of South Australia, Adelaide 5001, Australia. Electronic address:
    Pompe disease is caused by a deficiency in the lysosomal enzyme α-glucosidase, and this leads to glycogen accumulation in the autolysosomes of patient cells. Glycogen storage material is exocytosed at a basal rate in cultured Pompe cells, with one study showing up to 80% is released under specific culture conditions. Critically, exocytosis induction may reduce glycogen storage in Pompe patients, providing the basis for a therapeutic strategy whereby stored glycogen is redirected to an extracellular location and subsequently degraded by circulating amylases. Read More

    Late-onset pompe disease in Iran: A clinical and genetic report.
    Muscle Nerve 2017 Jun 3;55(6):835-840. Epub 2017 Feb 3.
    Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114, Iran.
    Introduction: Pompe disease is characterized by absence or deficiency of acid α-glucosidase, and several causative mutations are known. In this study we report clinical and laboratory data in Iranian patients with late-onset Pompe disease (LOPD), focusing on population-specific mutations.

    Methods: Clinical and laboratory data of 14 patients from 10 families with the diagnosis of LOPD were recorded. Read More

    A Senile Case of Late-onset Pompe's Disease.
    Intern Med 2016;55(18):2723-5. Epub 2016 Sep 15.
    Neurology Service, Tachikawa General Hospital, Japan.
    A 72-year-old, seemingly healthy, Japanese man suddenly lost consciousness. At the emergency room, the patient's Glasgow coma scale score was 10 and a thoracic breathing pattern was observed. An arterial blood gas analysis indicated acute hypercarbic respiratory failure. Read More

    Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease.
    Neuromuscul Disord 2016 Sep 27;26(9):610-3. Epub 2016 Jun 27.
    Paris-Est Neuromuscular Center, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
    Pregnancy and delivery are challenging in women affected by Pompe disease with respiratory involvement. We describe a 28-year-old woman, who continued to receive enzyme replacement therapy during pregnancy and had an uneventful vaginal birth. Before pregnancy the patient's vital capacity was 52% in sitting position and 51% in supine position. Read More

    Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity.
    Exp Neurol 2017 Jan 21;287(Pt 2):216-224. Epub 2016 Jul 21.
    Department of Pediatrics, P.O. Box 100144, University of Florida, Gainesville, FL 32610, United States.
    Pompe disease is an inherited disorder due to a mutation in the gene that encodes acid α-glucosidase (GAA). Children with infantile-onset Pompe disease develop progressive hypotonic weakness and cardiopulmonary insufficiency that may eventually require mechanical ventilation (MV). Our team conducted a first in human trial of diaphragmatic gene therapy (AAV1-CMV-GAA) to treat respiratory neural dysfunction in infantile-onset Pompe. Read More

    Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease).
    J Obstet Gynaecol Res 2016 Oct 7;42(10):1263-1271. Epub 2016 Jul 7.
    Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free London NHS Foundation Trust, University College London, London, UK.
    Aim: Glycogen storage disease type II (GSD II or Pompe disease; OMIM; 232 300) is a rare autosomal recessive lysosomal storage disorder resulting from deficiency of α-glucosidase and accumulation of glycogen in muscle. Clinical symptoms include weakness of skeletal and respiratory muscles and, in infants, cardiomyopathy. Patients with GSD II receive infusions of recombinant α-glucosidase (enzyme replacement therapy; ERT), which slow the progression of the disease. Read More

    Long-term, high-level hepatic secretion of acid α-glucosidase for Pompe disease achieved in non-human primates using helper-dependent adenovirus.
    Gene Ther 2016 Oct 1;23(10):743-752. Epub 2016 Jul 1.
    Department of Microbiology and Molecular Genetics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA.
    Pompe disease (glycogen storage disease type II (GSD-II)) is a myopathy caused by a genetic deficiency of acid α-glucosidase (GAA) leading to lysosomal glycogen accumulation causing muscle weakness, respiratory insufficiency and death. We previously demonstrated in GSD-II mice that a single injection of a helper-dependent adenovirus (HD-Ad) expressing GAA resulted in at least 300 days of liver secretion of GAA, correction of the glycogen storage in cardiac and skeletal muscles and improved muscle strength. Recent reports suggest that gene therapy modeling for lysososomal storage diseases in mice fails to predict outcomes in larger animal models. 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

    Anaesthetic management of a patient with Pompe disease for kyphoscoliosis correction.
    Indian J Anaesth 2016 May;60(5):349-51
    Department of Anaesthesiology, Manipal Hospital, Bengaluru, Karnataka, India.
    Pompe disease (PD) is a type II glycogen storage disease, characterised by abnormal glycogen deposition, mainly in heart and skeletal muscles, leading to progressive loss of muscle function. The infantile variety is associated with severe hypertrophic cardiomyopathy and generally do not reach adulthood. The juvenile variety presents with progressive muscle weakness and respiratory failure. Read More

    A multi-parametric protocol to study exercise intolerance in McArdle's disease.
    Acta Myol 2015 Dec;34(2-3):120-5
    Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy;
    McArdle's disease is the most common metabolic myopathy of muscle carbohydrate metabolism, due to deficiency of myophosphorylase and alteration of glycogen breakdown in muscle. The clinical manifestations usually begin in young adulthood, with exercise intolerance, exercise-induced muscle cramps, pain and recurrent episodes of myoglobinuria. Many patients experience the second wind phenomenon, characterized by an improved tolerance for aerobic exercise approximately after eight minutes of motor activity, secondary to the increased availability of blood glucose and free fatty acids associated to an enhanced glucose uptake by muscle cells. Read More

    Long-term whole-body vibration training in two late-onset Pompe disease patients.
    Neurol Sci 2016 Aug 18;37(8):1357-60. Epub 2016 May 18.
    Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Ziemssenstraße 1a, 80336, Munich, Germany.
    The treatment of late-onset Pompe disease (LOPD) relies on enzyme replacement therapy (ERT) and physiotherapy but the most appropriate exercise program is not yet established. Whole-body vibration training (WBVT) has showed promising results, improving motor performances in various populations. Our aim is to assess the effects of WBVT performed by two LOPD patients in addition to ERT and physiotherapy. Read More

    Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.
    Orphanet J Rare Dis 2016 May 17;11(1):63. Epub 2016 May 17.
    Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
    Background: Patients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of these patients. However, they still present residual muscle weakness. In the present study, we used longitudinal muscle magnetic resonance imaging (MRI) to determine whether this condition is progressive. Read More

    IgE-Mediated Hypersensitivity and Desensitisation with Recombinant Enzymes in Pompe Disease and Type I and Type VI Mucopolysaccharidosis.
    Int Arch Allergy Immunol 2016 4;169(3):198-202. Epub 2016 May 4.
    Department of Pediatric Allergy and Immunology, Ankara Children's Hematology and Oncology Hospital, Ankara, Turkey.
    Enzyme replacement therapy (ERT) is important for the treatment of lysosomal storage disorders. Hypersensitivity reactions with ERT have been reported, and in these cases, desensitisation with the enzyme is necessary. Here we report the cases of 3 patients with lysosomal storage disorders, including Pompe disease and mucopolysaccharidosis type I and VI, who had IgE-mediated hypersensitivity reactions and positive skin tests. 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

    Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.
    Can J Neurol Sci 2016 Jul 8;43(4):472-85. Epub 2016 Apr 8.
    18Department of Medical Genetics,University of Calgary,Calgary,Alberta,Canada.
    Pompe disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid alpha-glucosidase. Patients have skeletal muscle and respiratory weakness with or without cardiomyopathy. The objective of our review was to systematically evaluate the quality of evidence from the literature to formulate evidence-based guidelines for the diagnosis and management of patients with Pompe disease. Read More

    Reevaluating Muscle Biopsies in the Diagnosis of Pompe Disease: A Corroborative Report.
    Can J Neurol Sci 2016 Jul 4;43(4):561-6. Epub 2016 Apr 4.
    2Clinical Research Unit,Montreal Neurological Institute and Hospital,McGill University Health Centre,Montreal,QC,Canada.
    Background: Previous reports suggest that although a diagnostic muscle biopsy can confirm the presence of Pompe disease, the absence of a definitive biopsy result does not rule out the diagnosis.

    Methods: In this study, we reviewed patients with a limb-girdle syndrome who demonstrated nonspecific abnormalities of muscle, without evidence of the classical changes of acid maltase deficiency. These patients were rescreened for Pompe disease using dried blood spot (DBS) testing. Read More

    Salmeterol enhances the cardiac response to gene therapy in Pompe disease.
    Mol Genet Metab 2016 May 18;118(1):35-40. Epub 2016 Mar 18.
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
    Enzyme replacement therapy (ERT) with recombinant human (rh) acid α-glucosidase (GAA) has prolonged the survival of patients. However, the paucity of cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle, where it is needed to take up rhGAA, correlated with a poor response to ERT by muscle in Pompe disease. Clenbuterol, a selective β2 receptor agonist, enhanced the CI-MPR expression in striated muscle through Igf-1 mediated muscle hypertrophy, which correlated with increased CI-MPR (also the Igf-2 receptor) expression. Read More

    Combination of two different homozygote mutations in Pompe disease.
    Pediatr Int 2016 Mar;58(3):241-3
    Department of Pediatrics, Kayseri Education and Research Hospital, Kayseri, Turkey.
    Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1-glucosidase enzyme. Here we report the case of an 8-month-old girl of consanguineous Turkish parents, who was diagnosed with the infantile form of Pompe disease. Two different uncommon homozygote mutations (c. 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

    Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice.
    Respir Physiol Neurobiol 2016 Jun 26;227:48-55. Epub 2016 Feb 26.
    Department of Physical Therapy and McKnight Brain Institute, University of Florida, Gainesville, FL 32610, United States; Center for Respiratory Research and Rehabilitation, University of Florida, Gainesville, FL 32610, United States. Electronic address:
    Respiratory and/or lingual dysfunction are among the first motor symptoms in Pompe disease, a disorder resulting from absence or dysfunction of the lysosomal enzyme acid α-glucosidase (GAA). Here, we histologically evaluated the medulla, cervical and thoracic spinal cords in 6 weeks old asymptomatic Pompe (Gaa(-/-)) mice to determine if neuropathology in respiratory motor regions has an early onset. Periodic acid-Schiff (PAS) staining indicated glycogen accumulation was exclusively occurring in Gaa(-/-) hypoglossal, mid-cervical and upper thoracic motoneurons. Read More

    The infantile-onset form of Pompe disease: an autopsy diagnosis.
    Autops Case Rep 2015 Oct-Dec;5(4):45-51. Epub 2015 Dec 30.
    Department of Pathology - Hospital das Clínicas - Faculty of Medicine - University of São Paulo, São Paulo/SP - Brazil .
    Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme described in 1932 by the Dutch pathologist Joannes Cassianus Pompe. The prevalence of PD ranges from 1:40,000 to 1:300,000 births and depends on geographic and ethnic factors. Clinical manifestations may vary from a rapidly progressive disabling disease with cardiomegaly, hepatomegaly, weakness, generalized hypotonia, and death within the first year of life, to a mild presentation characterized by slowly progressive myopathy predominantly involving the skeletal muscles. Read More

    Infantile Pompe disease: A case report and review of the Chinese literature.
    Exp Ther Med 2016 Jan 12;11(1):235-238. Epub 2015 Nov 12.
    Department of Neonates, Nanjing Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, P.R. China.
    Pompe disease, also known as glycogen storage disease type II, is caused by acid maltase deficiency, and can lead to lysosomal glycogen storage. The primal manifestations may be observed in children and adults, and also in infants. In general, the clinical spectrum in infants is more progressive and lethal than that in older patients. Read More

    Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.
    Mol Genet Metab 2016 Apr 4;117(4):413-8. Epub 2016 Feb 4.
    Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Stott Line, M6 8HD, Salford, UK.
    Pompe disease is an autosomal recessive disease resulting from deficiency of the acid alpha-glucosidase (GAA). The late-onset Pompe Disease (LOPD) patients develop muscular and respiratory complications later in life. We describe a retrospective observational cohort study including 22 patients with LOPD. Read More

    ANESTHESIA MANAGEMENT IN AN INFANT WITH GLYCOGEN STORAGE DISEASE TYPE II (POMPE DISEASE).
    Middle East J Anaesthesiol 2015 Oct;23(3):343-6
    Pompe or Glycogen Storage Disease type II (GSD-II) is a genetic disorder affecting both cardiac and skeletal muscle. Historically, patients with the infantile form usually die within the first year of life due to cardiac and respiratory failure. Recently a promising enzyme replacement therapy has resulted in improved clinical outcomes and a resurgence of elective anesthesia for these patients. Read More

    Stroke in Young-Dilative Arteriopathy: A Clue to Late-Onset Pompe's Disease?
    J Stroke Cerebrovasc Dis 2016 Apr 4;25(4):e50-2. Epub 2016 Feb 4.
    Department of Neurology, NH Institute of Neurosciences, NH Health City, Bangalore, India.
    Importance: In almost a third of stroke in young cases, etiology remains unclear. We report a radiological entity which might give a clue toward detection of late onset Pompe's disease in some cases.

    Observation: Here we report two cases of stroke in young in which evaluation led to diagnosis of late onset Pompe's disease. Read More

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