291 results match your criteria Glycogen Storage Disease Type IV


Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

JIMD Rep 2019 20;45:99-104. Epub 2018 Dec 20.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.

Advancements in genetic testing now allow early identification of previously unresolved neuromuscular phenotypes. To illustrate this, we here present diagnoses of glycogen storage disease IV (GSD IV) in two patients with hypotonia and delayed development of gross motor skills. Patient 1 was diagnosed with congenital myopathy based on a muscle biopsy at the age of 6 years. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/8904_2018_148
Publisher Site
http://dx.doi.org/10.1007/8904_2018_148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336674PMC
December 2018
10 Reads

Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV.

JIMD Rep 2019 12;45:51-55. Epub 2018 Oct 12.

Department of Neonatology, The Children's Hospital at OU Medical Center, Oklahoma City, OK, USA.

Glycogen storage disease type IV (GSD-IV), or Andersen disease, is a rare autosomal recessive disorder that results from the deficiency of glycogen branching enzyme (GBE). This in turn results in accumulation of abnormal glycogen molecules that have longer outer chains and fewer branch points. GSD-IV manifests in a wide spectrum, with variable phenotypes depending on the degree and type of tissues in which this abnormal glycogen accumulates. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/8904_2018_142
Publisher Site
http://dx.doi.org/10.1007/8904_2018_142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336545PMC
October 2018
51 Reads

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

Clin Dysmorphol 2019 Jan;28(1):17-21

Departments of Medical Genetics.

Glycogen storage disease IV (GSD IV), caused by a defect in GBE1, is a clinically heterogeneous disorder. A classical hepatic form and a neuromuscular form have been described. The severe neuromuscular form presents as a fetal akinesia deformation sequence or a congenital subtype. Read More

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00019605-900000000-9954
Publisher Site
http://dx.doi.org/10.1097/MCD.0000000000000248DOI Listing
January 2019
3 Reads

Analysis of mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.

Mol Genet Metab Rep 2018 Dec 13;17:31-37. Epub 2018 Sep 13.

Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama 232-8555, Japan.

Background: Glycogen storage disease type IV (GSD IV), caused by mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include non-progressive form (NP-GSD IV) and adult polyglucosan body disease (APBD). Thus far, only one clinical case of a patient with compound heterozygous mutations has been reported for the molecular analysis of NP-GSD IV. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S22144269183006
Publisher Site
http://dx.doi.org/10.1016/j.ymgmr.2018.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140619PMC
December 2018
11 Reads

Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia.

J Inherit Metab Dis 2018 May 8. Epub 2018 May 8.

Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room 8N240C, NIH, 10 Center Drive, Bethesda, MD, 20892-1830, USA.

Glycogen storage disease type Ia (GSD-Ia) deficient in glucose-6-phosphatase-α (G6Pase-α) is a metabolic disorder characterized by impaired glucose homeostasis and a long-term complication of hepatocellular adenoma/carcinoma (HCA/HCC). Mitochondrial dysfunction has been implicated in GSD-Ia but the underlying mechanism and its contribution to HCA/HCC development remain unclear. We have shown that hepatic G6Pase-α deficiency leads to downregulation of sirtuin 1 (SIRT1) signaling that underlies defective hepatic autophagy in GSD-Ia. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-018-0192-1
Publisher Site
http://dx.doi.org/10.1007/s10545-018-0192-1DOI Listing
May 2018
17 Reads
3.370 Impact Factor

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Genet Med 2018 10 22;20(10):1284-1294. Epub 2018 Mar 22.

Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.

Purpose: Pompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage. Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at the 160 L production scale. In 2010, larger-scale rhGAA was approved for patients up to 8 years old without cardiomyopathy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2018.2DOI Listing
October 2018
27 Reads

Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study.

Neurology 2017 Dec 8;89(23):2365-2373. Epub 2017 Nov 8.

From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands.

Objective: To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on the long-term efficacy of ERT in Pompe disease.

Methods: We included 102 adult patients with Pompe disease in a nationwide, prospective cohort study. We assessed muscle strength (manual muscle testing with Medical Research Council [MRC] grading, handheld dynamometry [HHD]), muscle function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale), and pulmonary function (forced vital capacity [FVC] in upright and supine positions, maximum inspiratory and expiratory pressures) at 3- to 6-month intervals before and after the start of ERT. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000004711DOI Listing
December 2017
25 Reads

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Mol Genet Metab 2017 11 25;122(3):117-121. Epub 2017 Aug 25.

Department of Neurology & Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA; Neuromuscular Center, Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital, Dallas, USA; North Texas VA Health Care System, Dallas, TX, USA. Electronic address:

Objective: We investigated metabolism and physiological responses to exercise in an 18-year-old woman with multiple congenital abnormalities and exertional muscle fatigue, tightness, and rhabdomyolysis.

Methods: We studied biochemistry in muscle and fibroblasts, performed mutation analysis, assessed physiological responses to forearm and cycle-ergometer exercise combined with stable-isotope techniques and indirect calorimetry, and evaluated the effect of IV glucose infusion and oral sucrose ingestion on the exercise response.

Results: Phosphoglucomutase type 1 (PGM1) activity in muscle and fibroblasts was severely deficient and PGM1 in muscle was undetectable by Western blot. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.08.007DOI Listing
November 2017
30 Reads

Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV.

Pediatr Dev Pathol 2018 Jul-Aug;21(4):423-427. Epub 2017 May 12.

1 Departments of Pathology & Laboratory Medicine and Paediatrics, University of Calgary Cumming School of Medicine and Calgary Laboratory Services, Calgary, Alberta, Canada.

The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV (GSD IV). We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1093526617707852DOI Listing
May 2017
4 Reads

Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient.

Ann Clin Transl Neurol 2017 03 23;4(3):217-222. Epub 2017 Feb 23.

Department of Medicine University of Hawai'i at Mānoa Honolulu Hawaii.

Glycogen storage disease type-IV has varied clinical presentations and subtypes. We evaluated a 38-year-old man with memory complaints, common symptoms in adult polyglucosan body disease subtype, and investigated cognitive and functional MRI changes associated with two 25-sessions of adaptive working memory training. He showed improved trained and nontrained working memory up to 6-months after the training sessions. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338158PMC
March 2017
5 Reads

A Critical Evaluation of Liver Pathology in Humans with Danon Disease and Experimental Correlates in a Rat Model of LAMP-2 Deficiency.

Clin Rev Allergy Immunol 2017 Aug;53(1):105-116

Xijing Hospital of Digestive Diseases, The Fourth Military Medical University, 127 Changle West Road, Xi'an, Shaanxi Province, 710032, China.

Danon disease is a genetic deficiency in lysosome-associated membrane protein 2 (LAMP-2), a highly glycosylated constituent of the lysosomal membrane and characterized by a cardiomyopathy, skeletal muscle myopathy, and cognitive impairment. Patients, however, often manifest hepatic abnormalities, but liver function has not been well evaluated and the syndrome is relatively uncommon. Hence, we have taken advantage of a rat that has been deleted of LAMP-2 to study the relative role of LAMP-2 on liver function. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12016-017-8598-3DOI Listing
August 2017
30 Reads

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

Hum Gene Ther 2017 03 10;28(3):286-294. Epub 2016 Nov 10.

1 Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center , Durham, North Carolina.

Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues. This study evaluates the efficacy of gene therapy with an adeno-associated viral (AAV) vector in a mouse model of adult form of GSD IV (Gbe1). An AAV serotype 9 (AAV9) vector containing a human GBE expression cassette (AAV-GBE) was intravenously injected into 14-day-old Gbe1 mice at a dose of 5 × 10 vector genomes per mouse. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/hum.2016.099DOI Listing
March 2017
15 Reads

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.

Mol Genet Metab Rep 2016 Dec 4;9:31-33. Epub 2016 Oct 4.

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.

Patients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 weeks significantly reduced hepatic glycogen accumulation, lowered liver/body weight ratio, and reduced plasma ALP and ALT activities in GSD IV mice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2016.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053031PMC
December 2016
20 Reads

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.

J Pediatr Hematol Oncol 2016 10;38(7):e243-7

*Department of Pediatric Hematology/Oncology, Winthrop University Medical Center, Mineola †Division of Pediatric Gastroenterology, Hepatology, and Nutrition Departments of §Pediatric Hematology, Oncology and Stem Cell Transplantation ‡Pathology, Cell Biology, and Personalized Genomic Medicine ∥Pediatrics, Division of Clinical Genetics, Columbia University Medical center, New York, NY.

Severe congenital neutropenia type IV (SCN IV) is a syndrome of severe neutropenia, cardiac and urogenital defects, prominent superficial veins, facial dysmorphism, failure to thrive (FTT), and intermittent thrombocytopenia, caused by a glucose-6-phosphatase catalytic subunit 3 (G6PC3) gene mutation. SCN IV has been linked to glycogen storage disease type 1b as both disorders involve disruption of the glucose-6-phosphatase/glucose-6-phosphate transporter complex, leading to arrested neutrophil maturation. Emerging evidence suggests that neutrophil function plays an important role in intestinal integrity, evidenced by inflammatory bowel disease in certain neutropenic patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPH.0000000000000660DOI Listing
October 2016
21 Reads

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Neuromuscul Disord 2016 10 25;26(10):681-687. Epub 2016 Jul 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France. Electronic address:

Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness. A 3-year-old boy presented with arthrogryposis, motor developmental delay, weakness, and rigid spine. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2016.07.005DOI Listing
October 2016
58 Reads

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

Mol Genet Metab 2016 09 19;119(1-2):115-23. Epub 2016 May 19.

Sanofi Genzyme, Cambridge, MA, USA. Electronic address:

Background: Late-onset Pompe disease is characterized by progressive skeletal myopathy followed by respiratory muscle weakness, typically leading to loss of ambulation and respiratory failure. In this population, enzyme replacement therapy (ERT) with alglucosidase alfa has been shown to stabilize respiratory function and improve mobility and muscle strength. Muscle pathology and glycogen clearance from skeletal muscle in treatment-naïve adults after ERT have not been extensively examined. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192163008
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2016.05.013DOI Listing
September 2016
30 Reads

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.

JIMD Rep 2016 26;30:89-94. Epub 2016 Jun 26.

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, 27710, USA.

Deficiency of glycogen branching enzyme in glycogen storage disease type IV (GSD IV) results in accumulation of less-branched and poorly soluble polysaccharides (polyglucosan bodies) in multiple tissues. Standard enzymatic method, when used to quantify glycogen content in GSD IV tissues, causes significant loss of the polysaccharides during preparation of tissue lysates. We report a modified method including an extra boiling step to dissolve the insoluble glycogen, ultimately preserving the glycogen content in tissue homogenates from GSD IV mice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2015_522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110445PMC
June 2016
19 Reads

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

JIMD Rep 2017 4;31:79-83. Epub 2016 May 4.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center (DUMC), Box 103856, Durham, NC, 27710, USA.

Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII).We present a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary hyperparathyroidism. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2016_563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388642PMC
May 2016
29 Reads

A novel GBE1 gene variant in a child with glycogen storage disease type IV.

Hum Pathol 2016 08 20;54:152-6. Epub 2016 Apr 20.

Division of Anatomic Pathology, Mayo Clinic, Rochester, MN, United states, 55905.

Glycogen storage disease type IV is an autosomal recessive disorder of carbohydrates caused by deficiency of amylo-1-4-glycanoglycosyltransferase, which leads to accumulation of amylopectin-like polysaccharides in tissues including liver, heart and neuromuscular system. More than 40 different mutations in the glycogen branching enzyme gene (GBE1) have been described. In this study, we report a 2-year-old boy who presented with developmental delay and muscle weakness. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.humpath.2016.03.021DOI Listing
August 2016
12 Reads

Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.

Stem Cells Dev 2016 Jan 30;25(2):151-9. Epub 2015 Dec 30.

1 UMR7370 CNRS, LP2M, Labex ICST, Faculté de Médecine, University Nice Sophia Antipolis , Nice, France .

Andersen's syndrome (AS) is a rare disorder characterized by a triad of symptoms: periodic paralysis, cardiac arrhythmia, and bone developmental defects. Most of the patients carry mutations on the inward rectifier potassium channel Kir2.1 encoded by the KCNJ2 gene. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/scd.2015.0258DOI Listing
January 2016
13 Reads

A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Hum Mol Genet 2015 Dec 18;24(23):6801-10. Epub 2015 Sep 18.

Department of Molecular and Human Genetics and Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). The diagnostic hallmark of the disease is the accumulation of a poorly branched form of glycogen known as polyglucosan (PG). The disease is clinically heterogeneous, with variable tissue involvement and age at onset. Read More

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2015/10/10/hmg.d
Web Search
http://hmg.oxfordjournals.org/content/early/2015/09/17/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddv
Publisher Site
http://dx.doi.org/10.1093/hmg/ddv385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634380PMC
December 2015
16 Reads

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

Hum Mol Genet 2015 Oct 21;24(20):5667-76. Epub 2015 Jul 21.

Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, OX3 7DQ, UK,

Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating α-1,6-glucosidic branches from α-1,4-linked glucose chains, to increase solubility of the glycogen polymer. Mutations in the GBE1 gene lead to the heterogeneous early-onset glycogen storage disorder type IV (GSDIV) or the late-onset adult polyglucosan body disease (APBD). To better understand this essential enzyme, we crystallized human GBE1 in the apo form, and in complex with a tetra- or hepta-saccharide. Read More

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2015/08/04/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddv
Publisher Site
http://dx.doi.org/10.1093/hmg/ddv280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581599PMC
October 2015
41 Reads

Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.

Int J Gynecol Pathol 2016 Jan;35(1):38-40

Departments of Pathology (L.B.-A., A.B.G.) Clinical Genetics (L.A., A.M.L.), Copenhagen University Hospital, Copenhagen, Denmark.

A 30-yr-old woman presented with 2 consecutive miscarriages within 7 mo. Histopathologic examination of the placental tissue showed intracytoplasmic inclusion vacuoles with a strong reaction in Periodic acid-Schiff staining and a slightly pallor reaction in alcian blue staining. Additional molecular genetic analyses confirmed glycogen storage disease Type IV with the finding of compound heterozygosity for 2 mutations (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PGP.0000000000000214DOI Listing
January 2016
5 Reads

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

Prenat Diagn 2015 Nov 3;35(11):1073-8. Epub 2015 Aug 3.

Ambry Genetics, Aliso Viejo, CA, USA.

Objective: Exome sequencing is a successful option for diagnosing individuals with previously uncharacterized genetic conditions, however little has been reported regarding its utility in a prenatal setting. The goal of this study is to describe the results from a cohort of fetuses for which exome sequencing was performed.

Methods: We performed a retrospective analysis of the first seven cases referred to our laboratory for exome sequencing following fetal demise or termination of pregnancy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4648DOI Listing
November 2015
20 Reads

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

J Exp Med 2015 Jun 25;212(6):939-51. Epub 2015 May 25.

Division of Immunology and The Manton Center for Orphan Disease Research, Department of Pathology, Division of Hematology-Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 Harvard Stem Cell Institute, Harvard University, Boston, MA 02115

Inherited, complete deficiency of human HOIL-1, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylopectinosis. We report the clinical description and molecular analysis of a novel inherited disorder of the human LUBAC complex. A patient with multiorgan autoinflammation, combined immunodeficiency, subclinical amylopectinosis, and systemic lymphangiectasia, is homozygous for a mutation in HOIP, the gene encoding the catalytic component of LUBAC. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1084/jem.20141130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451137PMC
June 2015
42 Reads

Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases.

Clin Chim Acta 2015 Jun 2;446:218-20. Epub 2015 May 2.

Postgraduate Program in Medicine: Medical Sciences, UFRGS, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, Brazil; Department of Genetics, UFRGS, Porto Alegre, Brazil; INAGEMP, National Institute of Population Medical Genetics, Porto Alegre, Brazil.

Background: Lysosomal storage diseases (LSD) are a group of genetic conditions which could present a vast spectrum of abnormalities that may include skeletal abnormalities, organ dysfunction, neuronal involvement, and tissue accumulation of complex molecules, among other manifestations. Definitive diagnosis of LSD is generally obtained by specific enzyme assays performed in leukocytes, fibroblasts, or more recently, dried-blood filter paper (DBFP) samples.

Methods: We recently introduced dried-leukocytes filter paper (DLFP) as an alternative source of enzyme to assay heparan sulfamidase and galactocerebrosidase activities, which could not be measured in DBFP samples using fluorometric methods. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2015.04.034DOI Listing
June 2015
2 Reads

Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma.

Ultrastruct Pathol 2015 13;39(4):293-7. Epub 2015 Apr 13.

Department of Pathology and.

Glycogen branching enzyme deficiency/Andersen disease can manifest with a spectrum of clinical phenotypes, making the diagnosis difficult. An 11-year-old Pakistani boy presented with a history of progressive weakness and delayed milestones. Echocardiography showed features of dilated cardiomyopathy. Read More

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.3109/01913123.2015.10
Publisher Site
http://dx.doi.org/10.3109/01913123.2015.1014612DOI Listing
June 2016
5 Reads

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

View Article

Download full-text PDF

Source
http://www.neurology.org/content/84/17/1767.full.pdf
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000151
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001518DOI Listing
April 2015
14 Reads

First fully laparoscopic donor hepatectomy for pediatric liver transplantation using the indocyanine green near-infrared fluorescence imaging in the Middle East: a case report.

Ann Saudi Med 2014 Jul-Aug;34(4):354-7

Prof. Dieter Broering, Organ Transplant Center, MBC 96 King Faisal Specialist Hospital and Research Centre, PO Box 3354 Riyadh 11211, Saudi Arabia, T: +966115576162, F: +966114427772,

Living donor liver transplantation (LDLT) is a well-established treatment modality for several pediatric end-stage liver diseases owning excellent long-term results. Left lateral sectionectomy (LLS) through an open approach is a well-standardized procedure. This technique has been modified for a fully laparoscopic approach and gaining more and more interest worldwide. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5144/0256-4947.2014.354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6152557PMC
November 2015
27 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5223/pghn.2014.17.4.239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291449PMC
December 2014
7 Reads
3 Citations

Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.

Pediatr Dev Pathol 2016 Nov/Dec;19(6):512-515. Epub 2014 Dec 9.

1 Service d'Anatomie et Cytologie Pathologiques-Hôpital d'Enfants Armand Trousseau-AP-HP, Paris, France.

A 29-year-old primigravida presented with a spontaneous miscarriage at 8 weeks of gestation. There was no consanguinity in the family. Aspiration was performed. Read More

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.2350/14-09-1557-CR.1
Publisher Site
http://dx.doi.org/10.2350/14-09-1557-CR.1DOI Listing
June 2017
35 Reads

The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis.

Hum Mol Genet 2015 Jan 8;24(2):471-9. Epub 2014 Sep 8.

University Nice Sophia Antipolis, Nice, France Laboratory of Excellence Ion Channel Science and Therapeutics, LP2M, UMR 7370 CNRS, Nice, France Faculté de Médecine, Nice, France

Andersen's syndrome (AS) is a rare and dominantly inherited pathology, linked to the inwardly rectifying potassium channel Kir2.1. AS patients exhibit a triad of symptoms that include periodic paralysis, cardiac dysrhythmia and bone malformations. Read More

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/ddu462DOI Listing
January 2015
10 Reads

A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV.

JIMD Rep 2014 26;17:63-6. Epub 2014 Aug 26.

Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Hacettepe University, Sihhiye, 06100, Ankara, Turkey,

Human chitinolytic enzyme named "chitotriosidase" takes part in the defense mechanism against pathogens and the homeostasis of innate immunity. Chitotriosidase was firstly reported to be markedly high in plasma of patients with Gaucher disease. Abnormal lipid laden macrophages are thought to be responsible for stimulating the secretion of chitotriosidase in Gaucher disease. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2F8904_2014_335
Web Search
http://link.springer.com/10.1007/8904_2014_335
Publisher Site
http://dx.doi.org/10.1007/8904_2014_335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241209PMC
November 2014
14 Reads

[Cochlear implantation in immunocompromised patients].

Vestn Otorinolaringol 2014 (2):93-4

This paper reports a clinical case that gives evidence of the possibility of cochlear implantation after liver transplantation. Patient K. aged 3 years 10 months was admitted to the Russian Research and Practical Centre of Audiology and Hearing Rehabilitation with the diagnosis of type IB glycogenosis after maternal liver transplantation associated with chronic neutropenia, chronic cutaneous and mucosal infection, partial symptomatic partial epilepsy, retarded psycho-motor development, and complaints of the absence of auditory response. Read More

View Article

Download full-text PDF

Source
August 2014
7 Reads

Branching enzyme deficiency: expanding the clinical spectrum.

JAMA Neurol 2014 Jan;71(1):41-7

Department of Neurology, Columbia University Medical Center, New York, New York.

Importance: The neuromuscular presentation of glycogen branching enzyme deficiency includes a severe infantile form and a late-onset variant known as adult polyglucosan body disease. Herein, we describe 2 patients with adult acute onset of fluctuating neurological signs and brain magnetic resonance imaging lesions simulating multiple sclerosis. A better definition of this new clinical entity is needed to facilitate diagnosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaneurol.2013.4888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148323PMC
January 2014
38 Reads

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Br J Radiol 2014 Jan 14;87(1033):20130467. Epub 2013 Nov 14.

Lysosomal storage diseases (LSDs) are a large group of genetic metabolic disorders that result in the accumulation of abnormal material, such as mucopolysaccharides, glycoproteins, amino acids and lipids, within cells. Since many LSDs manifest during infancy or early childhood, with potentially devastating consequences if left untreated, timely identification is imperative to prevent irreversible damage and early death. In this review, the key imaging features of the non-lipid or extralipid LSDs are examined and correlated with salient clinical manifestations and genetic information. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1259/bjr.20130467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898971PMC
January 2014
5 Reads

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.

Clin Genet 2014 Aug 13;86(2):134-41. Epub 2013 Oct 13.

Department of Human Genetics, Faculty of Medicine, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.

Whole exome sequencing (WES) has greatly facilitated the identification of causal mutations for diverse human genetic disorders. We applied WES as a molecular diagnostic tool to identify disease-causing genes in consanguineous families in Qatar. Seventeen consanguineous families with diverse disorders were recruited. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/cge.12280
Publisher Site
http://dx.doi.org/10.1111/cge.12280DOI Listing
August 2014
2 Reads

New insights in the field of muscle glycogenoses.

Curr Opin Neurol 2013 Oct;26(5):544-53

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

Purpose Of Review: This review highlights recent contributions regarding clinical heterogeneity, pathogenic mechanisms, therapeutic trials, and animal models of the muscle glycogenoses.

Recent Findings: Most recent publications have dealt with the clinical effects of enzyme replacement therapy (ERT) in glycogenosis type II (Pompe disease), including the cognitive development of children with the infantile form who have reached school age. Standardized exercise testing has shown the similarity between McArdle disease and one of the most recently described muscle glycogenoses, phosphoglucomutase deficiency. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WCO.0b013e328364dbdcDOI Listing
October 2013
37 Reads

Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?

J Pediatr Endocrinol Metab 2013 ;26(11-12):1149-52

Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. Human chitotriosidase is a recently described fully active chitinase expressed by activated macrophages. Marked elevation of chitotriosidase activity was initially observed in plasma of patients with Gaucher disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2013-0066DOI Listing
July 2014
4 Reads

Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency.

J Clin Endocrinol Metab 2013 Jul 18;98(7):E1235-40. Epub 2013 Jun 18.

Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark.

Context: Phosphoglucomutase type 1 (PGM1) deficiency is a rare metabolic myopathy in which symptoms are provoked by exercise.

Objective: Because the metabolic block is proximal to the entry of glucose into the glycolytic pathway, we hypothesized that iv glucose could improve the exercise intolerance experienced by the patient.

Design: This was an experimental intervention study. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2013-1651DOI Listing
July 2013
23 Reads

B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.

J Pediatr 2013 Sep 16;163(3):847-54.e1. Epub 2013 Apr 16.

Department of Pediatrics, University of Florida, Gainesville, FL 32610, USA.

Objective: To evaluate whether B-cell depletion before enzyme replacement therapy (ERT) initiation can block acid alpha-glucosidase (GAA) antibody responses and improve clinical outcomes.

Study Design: Six subjects with Pompe disease (including 4 cross-reacting immunologic material-negative infants) aged 2-8 months received rituximab and sirolimus or mycophenolate before ERT. Four subjects continued to receive sirolimus, rituximab every 12 weeks, and intravenous immunoglobulin monthly for the duration of ERT. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2013.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981605PMC
September 2013
25 Reads

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Neuromuscul Disord 2013 Feb 3;23(2):165-9. Epub 2012 Dec 3.

Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.

The clinically and genetically heterogenous foetal akinesias have low rates of genetic diagnosis. Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known splice site mutation (c.691+2T>C) and a novel missense mutation (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2012.11.005DOI Listing
February 2013
12 Reads

HOIL and water: the two faces of HOIL-1 deficiency.

Nat Immunol 2012 Dec;13(12):1133-5

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ni.2471DOI Listing
December 2012
2 Reads

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.

Nat Immunol 2012 Dec 28;13(12):1178-86. Epub 2012 Oct 28.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York, USA.

We report the clinical description and molecular dissection of a new fatal human inherited disorder characterized by chronic autoinflammation, invasive bacterial infections and muscular amylopectinosis. Patients from two kindreds carried biallelic loss-of-expression and loss-of-function mutations in HOIL1 (RBCK1), a component of the linear ubiquitination chain assembly complex (LUBAC). These mutations resulted in impairment of LUBAC stability. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ni.2457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514453PMC
December 2012
18 Reads

Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum.

Case Rep Med 2012 26;2012:764286. Epub 2012 Sep 26.

Department of Cardiology, Kocaeli Derince Education and Research Hospital, 41900 Kocaeli, Turkey ; Department of Cardiology, Ankara Yuksek Ihtisas Education and Research Hospital, Sihhiye, 06410 Ankara, Turkey.

Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder due to the deficiency of α 1,4-glucan branching enzyme, resulting in an accumulation of amylopectin-like polysaccharide in various systems. We describe two cases, a 23-year-old girl with dilated cardiomyopathy who presented with progressive dyspnea and fatigue and a 28-year-old girl with hypertrophic cardiomyopathy who was asymptomatic, secondary to the accumulation of amylopectin-like fibrillar glycogen, in heart. In both patients, the diagnosis was confirmed by enzyme assessment. Read More

View Article

Download full-text PDF

Source
http://www.hindawi.com/journals/crim/2012/764286/
Publisher Site
http://dx.doi.org/10.1155/2012/764286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463931PMC
October 2012
6 Reads

Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.

J Perinatol 2012 Oct;32(10):810-3

Medical Genetics and Neurodevelopmental Pediatric Center-Peyton Manning Children Hospital, Indianapolis, IN 46260, USA.

A total of 11 types of glycogen storage disorders have been recognized with variable clinical presentations. Type IV, also known as Andersen disease, represents a rare subtype that can induce severe clinical findings early in life. We report on a patient with early fetal onset of symptoms with severe neuromuscular findings at birth. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jp.2011.178DOI Listing
October 2012
7 Reads