2,032 results match your criteria Glycogen Storage Disease Type II Pompe Disease

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.

Orphanet J Rare Dis 2021 Jun 3;16(1):254. Epub 2021 Jun 3.

Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal Do Rio Grande Do Sul, Ramiro Barcelos St., 2350, Porto Alegre, Brazil.

Background: Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is effective in achieving euglycemia, its impact on the quality of life of patients should be considered. Read More

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Uptake of moss-derived human recombinant GAA in mice.

JIMD Rep 2021 May 1;59(1):81-89. Epub 2021 Feb 1.

Friedrich-Baur-Institute at the Department of Neurology University Hospital, Ludwig-Maximilians-University Munich Munich Germany.

Pompe disease, an autosomal recessive lysosomal storage disorder, is caused by deficiency of lysosomal acid alpha-glucosidase (GAA). On cellular level, there is lysosomal-bound and free accumulation of glycogen and subsequent damage of organelles and organs. The most severe affected tissues are skeletal muscles and heart. Read More

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Phenotypic implications of pathogenic variant types in Pompe disease.

J Hum Genet 2021 May 11. Epub 2021 May 11.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.

Newborn screening and therapies for Pompe disease (glycogen storage disease type II, acid maltase deficiency) will continue to expand in the future. It is thus important to determine whether enzyme activity or type of pathogenic genetic variant in GAA can best predict phenotypic severity, particularly the presence of infantile-onset Pompe disease (IOPD) versus late-onset Pompe disease (LOPD). We performed a retrospective analysis of 23 participants with genetically-confirmed cases of Pompe disease. Read More

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[The importance of patient reported outcome measures in Pompe disease].

Ideggyogy Sz 2021 Mar;74(3-4):105-115

Semmelweis Egyetem, Genomikai Medicina és Ritka Betegségek Intézete, Budapest.

Background And Purpose: In recent decades it has become increasingly important to involve patients in their diagnostic and treatment process to improve treatment outcomes and optimize compliance. By their involvement, patients can become active participants in therapeutic developments and their observations can be utilized in determining the unmet needs and priorities in clinical research. This is especially true in rare diseases such as Pompe disease. Read More

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Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.

Int J Mol Sci 2021 Mar 31;22(7). Epub 2021 Mar 31.

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, 80131 Naples, Italy.

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of mutations. Read More

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Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.

Int J Mol Sci 2021 Mar 11;22(6). Epub 2021 Mar 11.

Department of Biomedical Sciences for Health, University of Milan, 20090 Milano, Italy.

Mutations in the acidic alpha-glucosidase (GAA) coding gene cause Pompe disease. Late-onset Pompe disease (LOPD) is characterized by progressive proximal and axial muscle weakness and atrophy, causing respiratory failure. Enzyme replacement therapy (ERT), based on recombinant human GAA infusions, is the only available treatment; however, the efficacy of ERT is variable. Read More

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Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia.

J Inherit Metab Dis 2021 Mar 19. Epub 2021 Mar 19.

Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Prevention of hypertriglyceridemia is one of the biomedical targets in Glycogen Storage Disease type Ia (GSD Ia) patients, yet it is unclear how hypoglycemia links to plasma triglyceride (TG) levels. We analyzed whole-body TG metabolism in normoglycemic (fed) and hypoglycemic (fasted) hepatocyte-specific glucose-6-phosphatase deficient (L-G6pc ) mice. De novo fatty acid synthesis contributed substantially to hepatic TG accumulation in normoglycemic L-G6pc mice. Read More

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Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients.

Front Neurol 2021 1;12:621257. Epub 2021 Mar 1.

Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

Pompe disease is a rare genetic disease produced by mutations in the GAA gene leading to progressive skeletal and respiratory muscle weakness. T1-weighted magnetic resonance imaging is useful to identify fatty replacement in skeletal muscles of late-onset Pompe disease (LOPD) patients. Previous studies have shown that replacement by fat correlates with worse results of muscle function tests. Read More

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SLC37A4-CDG: Second patient.

JIMD Rep 2021 Mar 6;58(1):122-128. Epub 2021 Jan 6.

Department of Pediatrics Center for Metabolic Diseases, University Hospitals Leuven Leuven Belgium.

Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in has been described. Read More

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[GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ].

Zhonghua Er Ke Za Zhi 2021 Mar;59(3):189-194

Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China.

To explore the GAA varient spectrum and the genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ (Pompe disease, PD), as well as to estimate the disease incidence based on carrier rate of GAA varients in Guangzhou population. A total of 57 PD cases were retrospectively enrolled at Guangzhou Women and Children's Medical Center from January 1, 2010 to May 31, 2020. All patients presented symptoms before the age of 18 years. Read More

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SGLT2 inhibition alleviated hyperglycemia, glucose intolerance, and dumping syndrome-like symptoms in a patient with glycogen storage disease type Ia: a case report.

J Med Case Rep 2021 Feb 16;15(1):75. Epub 2021 Feb 16.

Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto City, Kumamoto Prefecture, 860-8556, Japan.

Background: Glycogen storage disease (GSD) type Ia is a glycogenesis disorder with long-term complications such as hepatomegaly and renal dysfunction and is caused by congenital loss of glucose-6-phosphatase (G6Pase) expression. G6Pase is essential for the final step of gluconeogenesis and glycogenolysis, and its deficiency causes clinical hypoglycemia in the fasting state during infancy. Contrastingly, patients also show blood glucose trends and glucose intolerance similar to those in type II diabetes. Read More

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February 2021

Standardized nursing management of enzyme replacement therapy for late-onset Pompe disease.

Medicine (Baltimore) 2021 Jan;100(3):e24276

School of Nursing, Shanxi Medical University.

Abstract: Pompe disease or glycogen storage disease type II is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme a-glucosidase. Although enzyme replacement therapy (ERT) with 2 weekly intervals following was considered an effective treatment for Pompe disease in 2006, few patients can afford to receive treatment in China because of the high cost. This study aimed to examine the standard management of enzyme replacement therapy for late-onset Pompe disease among patients over the age of 14 years from a nursing perspective in order to assess operating procedures. Read More

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January 2021

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

Genet Med 2021 05 25;23(5):845-855. Epub 2021 Jan 25.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

Purpose: To assess the magnitude of benefit to early treatment initiation, enabled by newborn screening or prenatal diagnosis, in patients with cross-reactive immunological material (CRIM)-negative infantile Pompe disease (IPD), treated with enzyme replacement therapy (ERT) and prophylactic immune tolerance induction (ITI) with rituximab, methotrexate, and intravenous immunoglobulin (IVIG).

Methods: A total of 41 CRIM-negative IPD patients were evaluated. Among patients who were treated with ERT + ITI (n = 30), those who were invasive ventilator-free at baseline and had ≥6 months of follow-up were stratified based on age at treatment initiation: (1) early (≤4 weeks), (2) intermediate (>4 and ≤15 weeks), and (3) late (>15 weeks). Read More

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A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Orphanet J Rare Dis 2021 01 9;16(1):24. Epub 2021 Jan 9.

Division of Metabolism and Metabolic Diseases Research Unit, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146, Rome, Italy.

Background: Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the diagnosis. We developed a new tandem mass spectrometry method for the screening of urinary OS which was applied to identify a large panel of storage disorders. Read More

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January 2021

Novel autophagic vacuolar myopathies: Phenotype and genotype features.

Neuropathol Appl Neurobiol 2021 Jan 4. Epub 2021 Jan 4.

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy.

Background: Autophagic vacuolar myopathies (AVMs) are an emerging group of heterogeneous myopathies sharing histopathological features on muscle pathology, in which autophagic vacuoles are the pathognomonic morphologic hallmarks. Glycogen storage disease type II (GSDII) caused by lysosomal acid α-glucosidase (GAA) deficiency is the best-characterised AVM.

Aims: This study aimed to investigate the mutational profiling of seven neuromuscular outpatients sharing clinical, myopathological and biochemical findings with AVMs. Read More

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January 2021

The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey.

PLoS One 2020 31;15(12):e0244279. Epub 2020 Dec 31.

IGES Institut GmbH, Department Health Services Research, Berlin, Germany.

Background: Lysosomal Storage Diseases (LSD) are rare and multisytemic diseases which are caused by lysosomal enzyme deficiencies leading into accumulation of waste products due to an interruption in the decomposition process. Due to the low prevalence and therefore limited disease awareness as well as the fact that LSD patients present with unspecific symptoms the final diagnosis is often made after a long delay. The aim of this German-wide survey was to characterize the period between onset of symptoms and final diagnosis regarding e. Read More

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Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing.

Mol Ther 2021 04 23;29(4):1602-1610. Epub 2020 Dec 23.

Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

Glycogen storage disease type Ia (GSD-Ia), deficient in glucose-6-phosphatase-α (G6PC), is characterized by impaired glucose homeostasis and a hallmark of fasting hypoglycemia. We have developed a recombinant adeno-associated virus (rAAV) vector-mediated gene therapy for GSD-Ia that is currently in a phase I/II clinical trial. While therapeutic expression of the episomal rAAV-G6PC clinical vector is stable in mice, the long-term durability of expression in humans is currently being established. Read More

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Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease.

Clin Biochem 2021 Mar 8;89:14-37. Epub 2020 Dec 8.

Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi 110060, India. Electronic address:

Objectives: Diagnosis of lysosomal storage disorders (LSDs) remains challenging due to wide clinical, biochemical and molecular heterogeneity. The study applies a combined biochemical and genetic approach to diagnose symptomatic Indian patients of Pompe, Fabry, Gaucher and Hurler disease to generate a comprehensive dataset of pathogenic variants for these disorders.

Design & Methods: Symptomatic patients were biochemically diagnosed by fluorometric methods and molecular confirmation was carried out by gene sequencing. Read More

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Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.

Nat Commun 2020 12 8;11(1):6277. Epub 2020 Dec 8.

Wisconsin Institute for Discovery, University of Wisconsin-Madison, Madison, WI, USA.

Compound heterozygous recessive or polygenic diseases could be addressed through gene correction of multiple alleles. However, targeting of multiple alleles using genome editors could lead to mixed genotypes and adverse events that amplify during tissue morphogenesis. Here we demonstrate that Cas9-ribonucleoprotein-based genome editors can correct two distinct mutant alleles within a single human cell precisely. Read More

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December 2020

Health and economic outcomes of newborn screening for infantile-onset Pompe disease.

Genet Med 2021 04 7;23(4):758-766. Epub 2020 Dec 7.

Department of Health Management and Policy, University of Michigan, Ann Arbor, MI, USA.

Purpose: To estimate health and economic outcomes associated with newborn screening (NBS) for infantile-onset Pompe disease in the United States.

Methods: A decision analytic microsimulation model simulated health and economic outcomes of a birth cohort of 4 million children in the United States. Universal NBS and treatment was compared with clinical identification and treatment of infantile-onset Pompe disease. Read More

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Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.

Orphanet J Rare Dis 2020 11 23;15(1):329. Epub 2020 Nov 23.

Division of Dentistry, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy.

Background: Glycogen storage disease type II (GSDII) or Pompe disease is a rare autosomal recessive metabolic disorder that leads to intracellular glycogen storage in many tissues, mainly in skeletal muscle, heart and liver. Facial muscle weakness and altered craniofacial growth are very common in Pompe disease children. In this paper we describe the orofacial features in two children affected by GSDII and illustrate a multidisciplinary approach that involved enzyme replace therapy, non-invasive ventilation (NIV) and pediatric dentistry with 5-year follow-up. Read More

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November 2020

Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review.

J Thorac Dis 2020 Oct;12(Suppl 2):S235-S247

Lane Fox Respiratory Service, St. Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Late-onset Pompe disease (LOPD) is a rare autosomal recessive glycogen storage disease that results in accumulation of glycogen in muscle cells causing muscular weakness. It causes a progressive proximal myopathy, accompanied by respiratory muscle weakness, which can lead to ventilatory failure. In untreated LOPD, the most common cause of death is respiratory failure. Read More

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October 2020

Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice.

Sci Rep 2020 11 19;10(1):20239. Epub 2020 Nov 19.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, 10041, Taiwan.

Pompe disease (PD) is caused by lysosomal glycogen accumulation in tissues, including muscles and the central nervous system (CNS). The intravenous infusion of recombinant human acid alpha-glucosidase (rhGAA) rescues the muscle pathologies in PD but does not treat the CNS because rhGAA does not cross the blood-brain barrier (BBB). To understand the CNS pathologies in PD, control and PD mice were followed and analyzed at 9 and 18 months with brain structural and ultrastructural studies. Read More

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November 2020

Treatable lysosomal storage diseases in the advent of disease-specific therapy.

Intern Med J 2020 11;50 Suppl 4:5-27

Clinical Haematology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.

Lysosomal storage diseases (LSD) comprise a rare and heterogeneous group of nearly 50 heritable metabolic disorders caused by mutations in proteins critical for cellular lysosomal function. Defects in the activity of these proteins in multiple organs leads to progressive intra-lysosomal accumulation of specific substrates, resulting in disruption of cellular functions, extracellular inflammatory responses, tissue damage and organ dysfunction. The classification and clinical presentation of different LSD are dependent on the type of accumulated substrate. Read More

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November 2020

Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.

Neurol Sci 2021 Apr 13;42(4):1523-1525. Epub 2020 Nov 13.

Department of Neurology and Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.

Introduction/aims: Hereditary transthyretin amyloidosis with polyneuropathy (hATTRPN) is an autosomal dominant multi-organ disorder manifesting in the third to fifth decade with the key clinical features of distal and painful sensory loss of the lower limbs and autonomic dysregulation. Motor neuropathy and cardiomyopathy evolve in the course of the disease. Pompe disease is an autosomal recessive disease leading to decreased levels of lysosomal enzyme acid α-glucosidase and proximal muscle weakness. Read More

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Skeletal muscle magnetic resonance imaging in Pompe disease.

Muscle Nerve 2021 05 6;63(5):640-650. Epub 2020 Nov 6.

John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.

Pompe disease is characterized by a deficiency of acid alpha-glucosidase that results in muscle weakness and a variable degree of disability. There is an approved therapy based on enzymatic replacement that has modified disease progression. Several reports describing muscle magnetic resonance imaging (MRI) features of Pompe patients have been published. Read More

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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

BMC Med Genet 2020 11 2;21(1):216. Epub 2020 Nov 2.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Background: To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).

Methods: After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria. Read More

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November 2020

Newborn Screening for Pompe Disease.

Int J Neonatal Screen 2020 Jun 5;6(2):31. Epub 2020 Apr 5.

Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan; (T.S.); (K.N.).

Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity. Enzyme replacement therapy (ERT) should be started before symptoms are apparent in order to achieve optimal outcomes. Read More

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Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD).

Neurol Sci 2021 Jun 17;42(6):2411-2419. Epub 2020 Oct 17.

Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Pompe disease is a rare hereditary metabolic disorder caused by α-glucosidase (GAA) deficiency. The late-onset form of the disease (LOPD) is considered a multisystemic disorder which could involve vascular system with cerebrovascular abnormalities such as intracranial aneurysms or dolichoectasia. Intracranial aneurysm rupture may represent a life-threatening emergency. Read More

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