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    1676 results match your criteria Glycogen Storage Disease Type II Pompe Disease

    1 OF 34

    Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
    Mol Genet Metab 2017 Oct 17. Epub 2017 Oct 17.
    Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:
    Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or blood. Identification of two GAA pathogenic variants in-trans is confirmatory. Read More

    Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease.
    Medicine (Baltimore) 2017 Nov;96(44):e8415
    aDepartment of Radiology bDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
    Our study aimed to evaluate the utility of muscle ultrasound in newborn screening of infantile-onset Pompe disease (IOPD) and to establish a system of severity grading. We retrospectively selected 35 patients with initial low acid alpha-glucosidase (GAA) activity and collected data including muscle ultrasound features, GAA gene mutation, activity/performance, and pathological and laboratory findings. The echogenicity of 6 muscles (the bilateral vastus intermedius, rectus femoris, and sartorius muscles) was compared to that of epimysium on ultrasound and rated either 1 (normal), 2 (mildly increased), or 3 (obviously increased). Read More

    Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.
    Mol Genet Metab 2017 Oct 13. Epub 2017 Oct 13.
    Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC, USA. Electronic address:
    Background: Recombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but has unmasked central nervous system (CNS) changes.

    Methods: Brain imaging, consisting of computed tomography (CT) and/or magnetic resonance imaging (MRI), was performed on 23 patients with IPD (17 CRIM-positive, 6 CRIM-negative) aged 2-38months. Most patients had baseline neuroimaging performed prior to the initiation of ERT. Read More

    [Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases].
    Zhongguo Dang Dai Er Ke Za Zhi 2017 Oct;19(10):1092-1097
    Department of Pediatrics, Third Xiangya Hospital of Central South University, Changsha 410013, China.
    Glycogen storage disease type II (GSD II) is an autosomal recessive disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) and can affect multiple systems including the heart and skeletal muscle. The aim of this study was to investigate three children with GSD II confirmed by GAA gene analysis and to report their clinical characteristics and gene mutations. One case was classified as infantile-onset GSD II, and two cases as late-onset GSD II. Read More

    Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
    Mol Genet Metab 2017 Sep 19. Epub 2017 Sep 19.
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:
    Objective: Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T>G are not clear. Read More

    Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
    Am J Med Genet A 2017 Oct 1;173(10):2628-2634. Epub 2017 Aug 1.
    Duke University Medical Center, Durham, North Carolina.
    Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive metabolic myopathy with a broad clinical spectrum, ranging from infantile to late-onset presentations. In 2015, Pompe disease was added as a core condition to the Recommended Uniform Screening Panel for state newborn screening (NBS). The clinical importance of Pompe disease is evolving with the use of NBS, increasing awareness of the disease, and higher than previously reported disease prevalence; however, current practices miss additional diagnostic and potential treatment opportunities in close relatives of the family proband. Read More

    Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients.
    BMC Res Notes 2017 Jul 28;10(1):351. Epub 2017 Jul 28.
    Department of Radiology, Princess Margaret Hospital, Kowloon, Hong Kong SAR.
    Objective: Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacement therapy (ERT) is the only specific treatment available. Recently, LOPD has been associated with low bone mineral density (BMD), but the effect of ERT on BMD is inconclusive. Read More

    First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.
    Neuromuscul Disord 2017 Oct 20;27(10):951-955. Epub 2017 Jun 20.
    University Hospital of Nice, Cote d'Azur University, France.
    Glycogen storage disease type II, also known as Pompe disease, is an autosomal recessive disorder caused by deficiency of enzymatic activity of acid alpha-glucosidase. The wide phenotypical variation of this disease relates to the amount of residual enzymatic activity depending on the combination of mutations on each allele. We confirmed Pompe disease in a patient that presented with progressive weakness, recurrent episodes of respiratory failure associated with pneumonia, a predominantly demyelinating mixed sensorimotor polyneuropathy and paraspinal complex repetitive discharges. Read More

    Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy.
    J Clin Diagn Res 2017 May 1;11(5):SD01-SD02. Epub 2017 May 1.
    Senior Resident, Department of Paediatrics, VMMC and Safdarjung Hospital, New Delhi, India.
    Pompe disease, also known as glycogen storage disease Type II, is a lysosomal storage disorder caused by α-glucosidase deficiency. In general, the clinical spectrum varies with respect to the age of onset, residual enzyme activity and organ involvement. Infantile onset disease has two subtypes: classical and non-classical (atypical). Read More

    Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
    Mol Ther 2017 Sep 16;25(9):2117-2128. Epub 2017 Jun 16.
    International Centre for Genetic Engineering and Biotechnology, Area Science Park, Padriciano, 34149 Trieste, Italy. Electronic address:
    Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. The disease has been classified in infantile and late-onset forms. Most late-onset patients share a splicing mutation c. Read More

    [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy].
    Zhonghua Er Ke Za Zhi 2017 Jun;55(6):423-427
    Department of Pediatric Endocrinology and Genetics, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
    Objective: To investigate the clinical and laboratory features of three children with late-onset type Ⅱ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability. Method: Three cases of children with muscle weakness were included in this study.GAA activity was analyzed in Dried Blood Spot of the patients. Read More

    Critical Airway Stenosis in an Adolescent Male With Pompe Disease and Thoracic Lordosis: A Case Report.
    A A Case Rep 2017 Oct;9(7):199-203
    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 Aug;102(8):2690-2700
    Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
    Context: Glycogen storage disease (GSD) type 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 buildup. A likely candidate is glycogenin 2, an isoform expressed in the liver and heart but not in healthy skeletal muscle. Read More

    Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.
    Clin Chem 2017 Jul 27;63(7):1271-1277. Epub 2017 Apr 27.
    Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA.
    Background: Deficiency of the lysosomal enzyme acid α-glucosidase (GAA) causes Pompe disease. Newborn screening for Pompe disease is ongoing, and improved methods for distinguishing affected patients from those with pseudodeficiency, especially in the Asian population, would substantially reduce the number of patient referrals for clinical follow-up.

    Methods: We measured the enzymatic activity of GAA in dried blood spots on newborn screening cards (DBS) using a tandem mass spectrometry (MS/MS) assay. Read More

    E7 (1057ΔTA) mutation of the acidic α-glucosidase gene causes Pompe's disease in Droughtmaster cattle.
    Aust Vet J 2017 May;95(5):138-142
    The University of Queensland, Centre for Animal Science, Queensland Alliance for Agriculture and Food Innovation, Rockhampton, QLD, Australia.
    Objective: To determine whether known loss-of-function alleles of the acidic α-glucosidase gene (GAA) are present in the Droughtmaster breed and, if so, whether the clinical signs and pathology of generalised glycogenosis (Pompe's disease) previously reported in other affected cattle are also seen in homozygous Droughtmasters.

    Design: Existing genomic and other diagnostic tests developed for generalised glycogenosis in cattle were used to test for the presence of the three known loss-of-function alleles of GAA in a herd of Droughtmaster cattle. Two calves with clinical signs of generalised glycogenosis were submitted for necropsy. 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 Jun 10;21(6):391-396. 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

    Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.
    J Bras Pneumol 2017 Jan-Feb;43(1):54-59
    . Centro de Genética Médica, Instituto Nacional de Saúde da Mulher, Criança e Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro (RJ) Brasil.
    Objective:: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy.

    Methods:: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability. 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

    Airway smooth muscle dysfunction in Pompe (Gaa(-/-) ) mice.
    Am J Physiol Lung Cell Mol Physiol 2017 Jun 23;312(6):L873-L881. Epub 2017 Mar 23.
    Division of Pulmonary Medicine, Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts;
    Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. Deficiency of GAA leads to systemic glycogen accumulation in the lysosomes of skeletal muscle, motor neurons, and smooth muscle. Skeletal muscle and motor neuron pathology are known to contribute to respiratory insufficiency in Pompe disease, but the role of airway pathology has not been evaluated. 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 response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy.
    Echocardiography 2017 Apr 7;34(4):621-624. Epub 2017 Mar 7.
    Department of Pediatrics (Cardiology), Louisiana State University Health Sciences Center, New Orleans, LA, USA.
    Classic infantile-onset Pompe disease (IOPD), characterized by predominantly cardiac involvement, used to be considered uniformly lethal within months. The availability of enzyme replacement therapy (ERT) has transformed the course of the disease. Decrease in ventricular hypertrophy and improvement in ventricular function have been suggested as proof for efficacy. Read More

    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

    Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.
    PLoS One 2017 24;12(2):e0172532. Epub 2017 Feb 24.
    Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Hannover, Germany.
    Background: Worldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to diagnosis is about 6 years and patients receive several incorrect diagnoses during this time. Read More

    Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
    Clin Chem 2017 Apr 14;63(4):842-851. Epub 2017 Feb 14.
    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY;
    Background: Pompe disease (PD) is the first lysosomal storage disorder to be added to the Recommended Uniform Screening Panel for newborn screening. This condition has a broad phenotypic spectrum, ranging from an infantile form (IOPD), with severe morbidity and mortality in infancy, to a late-onset form (LOPD) with variable onset and progressive weakness and respiratory failure. Because the prognosis and treatment options are different for IOPD and LOPD, it is important to accurately determine an individual's phenotype. 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

    A Conversation with Kurt and Rochelle Hirschhorn.
    Annu Rev Genomics Hum Genet 2017 Aug 26;18:31-44. Epub 2017 Jan 26.
    Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142; email:
    In this interview, Kurt and Rochelle Hirschhorn talk with their son, Joel, about their research and collaborations, the early years of medical genetics, the development of genetic counseling, the challenges of being a woman in science, and new challenges and directions for the study of human genetics. Read More

    Modulation of mTOR signaling as a strategy for the treatment of Pompe disease.
    EMBO Mol Med 2017 Mar;9(3):353-370
    Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA
    Mechanistic target of rapamycin (mTOR) coordinates biosynthetic and catabolic processes in response to multiple extracellular and intracellular signals including growth factors and nutrients. This serine/threonine kinase has long been known as a critical regulator of muscle mass. The recent finding that the decision regarding its activation/inactivation takes place at the lysosome undeniably brings mTOR into the field of lysosomal storage diseases. 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

    Bent spine syndrome as the initial symptom of late-onset Pompe disease.
    Muscle Nerve 2017 Jul 30;56(1):167-170. Epub 2016 Nov 30.
    Rhumatologie, Hôpital Roger Salengro, Université de Lille 2, Centre Hospitalier Régional Universitaire de Lille, Lille, France.
    Introduction: Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available.

    Methods: Having diagnosed a case of LOPD presenting with bent spine syndrome, we conducted a brief survey in the French centers involved in management of Pompe disease, from which we collected data on 3 other cases.

    Results: The patients (3 women and 1 man) had a mean age of 64 years (range 51-77 years) and a delay in diagnosis of approximately 10 years (range 8-42 years). 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

    Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
    PLoS One 2016 6;11(10):e0163493. Epub 2016 Oct 6.
    Neuromuscular Disorders Unit. Neurology Department. Hospital de la Santa Creu i Sant Pau. Universitat Autònoma de Barcelona, Spain.
    Objectives: Enzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be one possible test but the correlation between muscle MRI and muscle strength and function has been only partially addressed so far. 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

    Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
    Muscle Nerve 2017 Jun 9;55(6):841-848. Epub 2017 Feb 9.
    Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.
    Introduction: The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5 ± 2.74 years) affected by classic infantile-onset Pompe disease who were treated with enzyme replacement therapy. 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

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