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Glycogenosis adult

Patricia K Aruj, Silvia Rausch, Eduardo L De Vito
Pompe disease (glycogenosis type II) is an inherited autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase. Thymic neuroendocrine tumors, are primary thymic neoplasms with neuroendocrine differentiation that generally present as a mass within the anterior mediastinum. Both diseases are considered rare. To our knowledge the co-existence of Pompe disease and thymic neuroendocrine tumor in the same patient has not been previously reported. We could not find biological plausibility between both diseases...
2015: Medicina
H Orhan Akman, Valentina Emmanuele, Yasemin Gülcan Kurt, Bülent Kurt, Tatiana Sheiko, Salvatore DiMauro, William J Craigen
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. Complete loss of enzyme activity is lethal in utero or in infancy and affects primarily the muscle and the liver. However, residual enzyme activity as low as 5-20% leads to juvenile or adult onset of a disorder that primarily affects the central and peripheral nervous system and muscles and in the latter is termed adult polyglucosan body disease (APBD)...
December 1, 2015: Human Molecular Genetics
E V Boĭtsova, M A Beliashova, D Iu Ovsiannikov
Interstitial lung diseases (ILD, diffuse lung diseases) are a heterogeneous group of diseases in which a pathological process primarily involved alveoli and perialveolar interstitium, resulting in impaired gas exchange, restrictive changes of lung ventilation function and diffuse interstitial changes detectable by X-ray. Children's interstitial lung diseases is an topical problem ofpediatricpulmonoogy. The article presents current information about classification, epidemiology, clinical presentation, diagnostics, treatment and prognosis of these rare diseases...
2015: Vestnik Rossiĭskoĭ Akademii Meditsinskikh Nauk
Mark A Hellmann, Or Kakhlon, Ezekiel H Landau, Menachem Sadeh, Nir Giladi, Ilana Schlesinger, Daphne Kidron, Oded Abramsky, Avinoam Reches, Zohar Argov, Jose M Rabey, Joab Chapman, Hanna Rosenmann, Aya Gal, J Moshe Gomori, Vardiella Meiner, Alexander Lossos
Adult polyglucosan body disease (APBD) is a rare glycogenosis manifesting progressive spastic paraparesis, sensorimotor polyneuropathy and neurogenic bladder. Misdiagnosis of APBD may lead to unnecessary investigations and to potentially harmful therapeutic interventions. To examine the frequency of misdiagnosis of APBD, we retrospectively reviewed the clinical data of 30 patients diagnosed between 1991 and 2013. Diagnosis was based on the combination of typical clinical and imaging findings, reduced glycogen branching enzyme activity, and the presence of p...
October 2015: Journal of Neurology
Magdalena Sarah Volz, Mani Nassir, Christoph Treese, Moritz von Winterfeld, Ursula Plöckinger, Hans-Jörg Epple, Britta Siegmund
BACKGROUND: Inflammatory bowel disease (IBD)-like conditions in glycogen storage disease (GSD) type Ib have been predominantly described in children. Signs and symptoms of GSD type Ib are hypoglycemia, pancytopenia and hepatosplenomegaly. Based on few published cases, there is evidence that granulocyte-colony stimulating factor (G-CSF) in patients with glycogenosis-related pancytopenia might ameliorate the IBD-like disease through leukocyte increase. CASE PRESENTATION: Here we firstly describe a case of an adult 33-year-old Caucasian male patient with GSD type Ib accompanied with IBD-like disease with persistent pancytopenia despite moderate-dose G-CSF treatment...
2015: BMC Gastroenterology
Nicolai Preisler, Pascal Laforêt, Karen Lindhardt Madsen, Kira Philipsen Prahm, Gitte Hedermann, Christoffer Rasmus Vissing, Henrik Galbo, John Vissing
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...
April 28, 2015: Neurology
Andoni Echaniz-Laguna, Robert-Yves Carlier, Kenza Laloui, Pierre Carlier, Emmanuelle Salort-Campana, Jean Pouget, Pascal Laforet
INTRODUCTION: Acid α-glucosidase deficiency, that is, Pompe disease, is a glycogenosis for which enzyme replacement therapy (ERT) is available. It is not known whether patients diagnosed at an asymptomatic stage should be treated to prevent progression of the disease. METHODS: We investigated 7 patients with asymptomatic Pompe disease identified from the French Pompe registry. RESULTS: The patients had a mean age of 45 (range 24-75) years, a median follow-up duration of 2 (range 1-22) years, and normal clinical examination, pulmonary function tests (PFTs), and echocardiography...
June 2015: Muscle & Nerve
Corrado Angelini, Anna C Nascimbeni, Marina Fanin
We studied the role of autophagy in a series of 10 infantile-, juvenile-, and adult-onset GSDII patients and investigated autophagy blockade in successive biopsies of adult cases during disease natural history. We also correlated the autophagosome accumulation and efficiency of enzyme replacement therapy (ERT) in four treated cases (two infantile and two juvenile-adult onsets).The autophagic flux was monitored by measuring the amount of p62-positive protein aggregates and compared, together with fibre vacuolisation, to fibre atrophy...
2015: JIMD Reports
Giuseppe Fiorentino, Anna Annunziata, Luisa Politano
Patients affected by glycogenosis type II frequently present sleep disordered breathing. The presence of symptoms suggestive of sleep breathing disorders was investigated, by a questionnaire, in 10 patients, affected by adult or juvenile forms of glycogenosis type II. Diurnal respiratory function, diaphragm weakness and nocturnal respiratory pattern were evaluated at the enrolment. In patients presenting sleep disordered breathing, the same parameters were re-evaluated after treatment with assisted non invasive ventilation...
October 2014: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
Sebene Mayorandan, Uta Meyer, Hans Hartmann, Anibh Martin Das
BACKGROUND: Frequent feeds with carbohydrate-rich meals or continuous enteral feeding has been the therapy of choice in glycogen storage disease (Glycogenosis) type III. Recent guidelines on diagnosis and management recommend frequent feedings with high complex carbohydrates or cornstarch avoiding fasting in children, while in adults a low-carb-high-protein-diet is recommended. While this regimen can prevent hypoglycaemia in children it does not improve skeletal and heart muscle function, which are compromised in patients with glycogenosis IIIa...
2014: Orphanet Journal of Rare Diseases
M Filosto, M S Cotelli, V Vielmi, A Todeschini, F Rinaldi, S Rota, M Scarpelli, A Padovani
Glycogenosis II (GSDII) is an autosomal recessive lysosomal storage disorder resulting from acid alpha-glucosidase (GAA) deficiency, subsequent lysosomal accumulation of glycogen in muscles, impairment of autophagic processes and progressive cardiac, motor and respiratory failure. The infantile form usually appears in the first month of life, progresses rapidly and presents with severe cardiac involvement and complete deficiency of alpha-glucosidase activity (< 1% of normal controls). The late-onset form is characterized by great variability of the phenotypical spectrum...
October 10, 2014: Current Molecular Medicine
Serena Pagliarani, Sabrina Lucchiari, Gianna Ulzi, Raffaella Violano, Michela Ripolone, Andreina Bordoni, Monica Nizzardo, Stefano Gatti, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo P Comi
Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL. Essential features of this disease are hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Progressive skeletal myopathy, neuropathy, and/or cardiomyopathy become prominent in adults. Currently, there is no available cure. We generated an Agl knockout mouse model by deletion of the carboxy terminus of the protein, including the carboxy end of the glucosidase domain and the glycogen-binding domain...
November 2014: Biochimica et Biophysica Acta
Hyung Jun Park, Ha Young Shin, Yu Na Cho, Seung Min Kim, Young-Chul Choi
Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum creatine kinase level was 1,161 IU/L at rest. The result of the non-ischemic forearm exercise test was compatible with GSD-V...
July 2014: Journal of Korean Medical Science
Betty Korljan Jelaska, Sanja Baršić Ostojić, Nina Berović, Višnja Kokić
UNLABELLED: Glycogen storage disease (GSD) type I is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe hypoglycaemia and increased production of lactic acid, triglyceride and uric acid. The most common type, glycogenosis type Ia, demands a balanced, sufficient carbohydrate intake to preserve normal 24-h glycaemia. Insufficient intake of carbohydrates can cause hypoglycaemia, as the missing glucose-6-phosphatase enzyme cannot free the glucose stored as liver glycogen and nor is gluconeogenesis possible...
2013: Endocrinology, Diabetes & Metabolism Case Reports
Florence Defresne, Tatiana Tondreau, Xavier Stéphenne, Françoise Smets, Annick Bourgois, Mustapha Najimi, François Jamar, Etienne M Sokal
INTRODUCTION: Current treatment of inherited liver inborn errors of metabolism in children consists in appropriate diet and drugs and, for unstable patients, final orthotopic liver transplantation. Unfortunately, liver transplantation remains not easily available because of organ shortage and imposes inherent risks and lifelong immunosuppressive therapy. Therefore alternative treatments are required. Hepatocytes transplantation and its limitations led to consider innovative alternative such as transplantation of adult derived human liver stem cells (ADLHSC)...
April 2014: Nuclear Medicine and Biology
Istvan Katona, Joachim Weis, Frank Hanisch
BACKGROUND: Glycogenosis type II or Pompe disease is an autosomal-recessive lysosomal storage disease due to mutations in the gene encoding acid alpha-glucosidase (GAA), an enzyme required for lysosomal glycogen degradation. The disease predominantly affects the skeletal and respiratory muscles but there is growing evidence of the involvement of smooth muscle cells in blood vessel walls, suggesting a multi-system disorder. Moreover, the failure of autophagy in Pompe disease could contribute to muscular atrophy and disease progression and is thought to compromise the efficacy of enzyme replacement therapy (ERT)...
2014: Orphanet Journal of Rare Diseases
Laura Deroma, Mattia Guerra, Annalisa Sechi, Giovanni Ciana, Giorgia Cisilino, Andrea Dardis, Bruno Bembi
UNLABELLED: Glycogenosis type II, a genetic muscle-wasting disorder, results in a spectrum of clinical phenotypes. Enzyme replacement therapy is effective in the infantile form of the disease, while little is known about its effectiveness in late-onset disease, especially in juvenile patients. The purpose of this retrospective cohort study was to assess the long-term effects of enzyme replacement therapy (ERT) in juvenile glycogenosis type II (GSDII). Eight Italian juvenile GSDII patients, receiving biweekly infusions of 20 mg/kg recombinant human α-glucosidase for at least 72 months, were enrolled (median age at therapy start was 11...
June 2014: European Journal of Pediatrics
Simone Sampaolo, Teresa Esposito, Olimpia Farina, Daniela Formicola, Daria Diodato, Fernando Gianfrancesco, Federica Cipullo, Gaetana Cremone, Mario Cirillo, Luca Del Viscovo, Antonio Toscano, Corrado Angelini, Giuseppe Di Iorio
BACKGROUND: Glycogenosis type II (GSDII or Pompe disease) is an autosomal recessive disease, often characterized by a progressive accumulation of glycogen within lysosomes caused by a deficiency of α-1,4-glucosidase (GAA; acid maltase), a key enzyme of the glycogen degradation pathway. To date, more than 326 different mutations in the GAA gene have been identified in patients with GSDII but the course of the disease is difficult to be predicted on the basis of molecular genetic changes...
2013: Orphanet Journal of Rare Diseases
Arianna Citti, Donatella Peca, Stefania Petrini, Renato Cutrera, Paolo Biban, Cristina Haass, Renata Boldrini, Olivier Danhaive
Pediatric diffuse lung diseases are rare disorders with an onset in the neonatal period or in infancy, characterized by chronic respiratory symptoms and diffuse interstitial changes on imaging studies. Genetic disorders of surfactant homeostasis represent the main etiology. Surfactant protein B and ABCA3 deficiencies typically cause neonatal respiratory failure, which is often lethal within a few weeks or months. Although heterozygous ABCA3 mutation carriers are mostly asymptomatic, there is growing evidence that monoallelic mutations may affect surfactant homeostasis...
October 2013: Ultrastructural Pathology
P Laforêt, K Laloui, B Granger, D Hamroun, N Taouagh, J-Y Hogrel, D Orlikowski, F Bouhour, A Lacour, E Salort-Campana, I Penisson-Besnier, S Sacconi, F Zagnoli, F Chapon, B Eymard, C Desnuelle, J Pouget
Pompe disease is a rare autosomal recessive muscle lysosomal glycogenosis, characterised by limb-girdle muscle weakness and frequent respiratory involvement. The French Pompe registry was created in 2004 with the initial aim of studying the natural history of French patients with adult Pompe disease. Since the marketing in 2006 of enzyme replacement therapy (alglucosidase alfa, Myozyme(®)), the French Pompe registry has also been used to prospectively gather the biological and clinical follow-up data of all adult patients currently treated in France...
August 2013: Revue Neurologique
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