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T Mahévas, D Gobert, M Gatfossé, A Mekinian, O Fain
INTRODUCTION: Hepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay. Insulin edema is sometimes associated. CASE REPORT: An 18-year-old woman presented with diffuse edema, hepatomegaly, amenorrhea, uncontrolled diabetes, and elevated transaminases and cholestasis. Hepatic ultrasonography and abdominal computed tomographic scan confirmed the hepatomegaly. The liver biopsy showed a massive glycogenosis and the diagnosis of hepatic glycogenosis was confirmed...
October 13, 2016: La Revue de Médecine Interne
P Laforêt
The field of glycogenosis has been greatly expanded over the past few years with the discovery of new metabolic diseases that have allowed new metabolic pathways to be deciphered. Described here are the clinical and pathological features of four recently described muscle glycogenoses caused by GYS1, GYG1, RBCK1 and PGM1 gene mutations. The initial steps of glycogen synthesis are involved in deficiencies of glycogenin-1 (GYG1) and muscle glycogen synthase (GYS1). Phosphoglucomutase deficiency disrupts two metabolic pathways: the connection between galactose and glycogen on the one hand, and glucose metabolism on the other...
October 2016: Revue Neurologique
Renate Zeevaert, Emmanuel Scalais, Laura Muino Mosquera, Linda De Meirleir, Carine De Beaufort, Michael Witsch, Jaak Jaeken, Jean De Schepper
OBJECTIVE AND IMPORTANCE: Phosphoglucomutase 1 (PGM1) deficiency, first described as a glycogenosis (type XIV) is also a congenital disorder of glycosylation (CDG). We want to illustrate the wide clinical spectrum of PGM1 deficiency and in particular the associated disturbance in glucose metabolism and the endocrine dysfunction. Treatment with d-galactose is experimental. CASE PRESENTATION: PGM1 deficiency was diagnosed in an 8-year-old boy, who was referred because of an unexplained complex syndrome, including recurrent hypoglycaemia and low IGF-1 mediated growth failure...
May 24, 2016: Acta Clinica Belgica
Thomas O Krag, Tomàs Pinós, Tue L Nielsen, Jordi Duran, Mar García-Rocha, Antoni L Andreu, John Vissing
McArdle disease (muscle glycogenosis type V) is a disease caused by myophosphorylase deficiency leading to "blocked" glycogen breakdown. A significant but varying glycogen accumulation in especially distal hind limb muscles of mice affected by McArdle disease has recently been demonstrated. In this study, we investigated how myophosphorylase deficiency affects glucose metabolism in hind limb muscle of 20-wk-old McArdle mice and vastus lateralis muscles from patients with McArdle disease. Western blot analysis and activity assay demonstrated that glycogen synthase was inhibited in glycolytic muscle from McArdle mice...
August 1, 2016: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
A K Morrison, M Patel, S L Johnson, R LeGallo, W G Teague, B Vergales
Pulmonary interstitial glycogenosis is an interstitial lung disease of childhood that has been increasingly reported over the past decade. Here, we present a case of pulmonary interstitial glycogenosis associated with trisomy 21, pulmonary arterial hypertension, and congenital heart disease in a 34 week premature infant.
May 17, 2016: Journal of Neonatal-perinatal Medicine
Julien Thevenon, Gabriel Laurent, Flavie Ader, Pascal Laforêt, Didier Klug, Anju Duva Pentiah, Laurent Gouya, Claude Alain Maurage, Salem Kacet, Jean-Christophe Eicher, Juliette Albuisson, Michel Desnos, Eric Bieth, Denis Duboc, Laurent Martin, Patricia Réant, François Picard, Claire Bonithon-Kopp, Elodie Gautier, Christine Binquet, Christel Thauvin-Robinet, Laurence Faivre, Patrice Bouvagnet, Philippe Charron, Pascale Richard
AIMS: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations. METHODS AND RESULTS: A cohort of 34 patients from 9 families was recruited between 2001 and 2010...
May 17, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Sophie Collardeau-Frachon, Marie-Pierre Cordier, Massimiliano Rossi, Laurent Guibaud, Christine Vianey-Saban
This review highlights the importance of performing an autopsy when faced with fetal abortion or termination of pregnancy with suspicion of an inborn error of metabolism. Radiological, macroscopic and microscopic features found at autopsy as well as placental anomalies that can suggest such a diagnosis are detailed. The following metabolic disorders encountered in fetuses are discussed: lysosomal storage diseases, peroxisomal disorders, cholesterol synthesis disorders, congenital disorders of glycosylation, glycogenosis type IV, mitochondrial respiratory chain disorders, transaldolase deficiency, generalized arterial calcification of infancy, hypophosphatasia, arylsulfatase E deficiency, inborn errors of serine metabolism, asparagine synthetase deficiency, hyperphenylalaninemia, glutaric aciduria type I, non-ketotic hyperglycinemia, pyruvate dehydrogenase deficiency, pyruvate carboxylase deficiency, glutamine synthase deficiency, sulfite oxidase and molybdenum cofactor deficiency...
September 2016: Journal of Inherited Metabolic Disease
Thomas O Krag, Tomàs Pinós, Tue L Nielsen, Astrid Brull, Antoni L Andreu, John Vissing
McArdle disease (muscle glycogenosis type V) is caused by myophosphorylase deficiency, which leads to impaired glycogen breakdown. We investigated how myophosphorylase deficiency affects muscle physiology, morphology, and glucose metabolism in 20-week-old McArdle mice and compared the findings to those in McArdle disease patients. Muscle contractions in the McArdle mice were affected by structural degeneration due to glycogen accumulation, and glycolytic muscles fatigued prematurely, as occurs in the muscles of McArdle disease patients...
May 2016: Journal of Neuropathology and Experimental Neurology
Gail H Deutsch, Lisa R Young
No abstract text is available yet for this article.
March 15, 2016: American Journal of Respiratory and Critical Care Medicine
Corrado Angelini, Marco Savarese, Marina Fanin, Vincenzo Nigro
INTRODUCTION: We report a patient in whom the diagnosis of a treatable disease was delayed for 30 years. METHODS: Recent discoveries of next generation sequencing (NGS) have allowed us to reconsider the diagnosis of limb girdle muscular dystrophy (LGMD) cases of unknown etiology. RESULTS: A 36-year-old man appeared to have LGMD with onset in shoulder girdle muscles, but all sarcolemmal and cytoskeletal proteins tested by immunoblotting and immunohistochemistry gave normal results...
June 2016: Muscle & Nerve
Monika Vyas, Xuchen Zhang, Jon S Morrow, Dhanpat Jain, Ronald R Salem, A Brian West
One of the important functions of the liver is glycogen storage. Most processes associated with increased hepatic glycogen, or glycogenoses, are metabolic and affect the entire liver leading to diffuse glycogenosis. We present a case in which the liver contained multiple small pale nodules that on initial assessment were recognized to be composed of glycogenated hepatocytes. Most of the known causes of hepatic glycogenosis were not pertinent to this case. After cutting many deeper levels and obtaining additional sections, small foci of insulinoma were revealed in the center of each of these lesions...
January 2016: Pathology, Research and Practice
Maresa E C Jiskoot-Ermers, Tim A J Antonius, Monika G Looijen-Salamon, Marc H W A Wijnen, Bettina F Loza, Arno F J van Heijst
Pulmonary interstitial glycogenosis (PIG) is a rare interstitial lung disease in the newborns. We report on the clinical presentation and pathological findings of a full-term male infant with pulmonary hypertension requiring extracorporeal membrane oxygenation (ECMO). An open lung biopsy demonstrated interstitial changes resembling pulmonary interstitial glycogenosis as well as bronchopulmonary dysplasia (BPD), without convincing evidence of maturational arrest, infection, alveolar proteinosis, or alveolar capillary dysplasia...
October 2015: American Journal of Perinatology Reports
Daniela Rauch, Martin Wetzke, Simone Reu, Waltraud Wesselak, Andrea Schams, Meike Hengst, Birgit Kammer, Julia Ley-Zaporozhan, Matthias Kappler, Marijke Proesmans, Joanna Lange, Amparo Escribano, Eitan Kerem, Frank Ahrens, Frank Brasch, Nicolaus Schwerk, Matthias Griese
RATIONALE: Persistent tachypnea of infancy (PTI) is a specific clinical entity of undefined etiology comprising the two diseases neuroendocrine cell hyperplasia of infancy (NEHI) and pulmonary interstitial glycogenosis. The outcome of typical NEHI is favorable. The outcome may be different for patients without a typical NEHI presentation, and thus a lung biopsy to differentiate the diseases is indicated. OBJECTIVES: To determine whether infants with the characteristic clinical presentation and computed tomographic (CT) imaging of NEHI (referred to as "usual PTI") have long-term outcome and biopsy findings similar to those of infants with an aberrant presentation and/or with additional localized minor CT findings (referred to as "aberrant PTI")...
February 15, 2016: American Journal of Respiratory and Critical Care Medicine
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
Brunella Tancini, Giovanni Tosi, Barbara Bortot, Diego Dolcetta, Alessandro Magini, Eleonora De Martino, Lorena Urbanelli, Barbara Ruozi, Flavio Forni, Carla Emiliani, Maria Angela Vandelli, Giovanni Maria Severini
Glycogenosis type II, or Pompe Disease, is a lysosomal storage disease caused by the deficiency of acid alpha-glucosidase (GAA), leading to glycogen accumulation in muscles. A recombinant human GAA (rhGAA, Myozyme®) is currently used for enzyme replacement therapy. Despite its efficacy in most of patients, some of them show a diminished response to the treatment with rapidly progressive clinical deterioration, due to immuno-mediated enzyme inactivation. To demonstrate that Nanoparticles (NPs) could be profitably exploited to carry macromolecules, PLGA NPs loaded with rhGAA (GAA-NPs) were prepared by double emulsion solvent evaporation...
April 2015: Journal of Nanoscience and Nanotechnology
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
In Ah Jung, Won Kyoung Cho, Yeon Jin Jeon, Shin Hee Kim, Kyoung Soon Cho, So Hyun Park, Min Ho Jung, Byung-Kyu Suh
Hepatic glycogenosis in type 1 diabetes mellitus (DM) can be caused by poor glycemic control due to insulin deficiency, excessive insulin treatment for diabetic ketoacidosis, or excessive glucose administration to control hypoglycemia. Mauriac syndrome, which is characterized by hepatomegaly due to hepatic glycogenosis, growth retardation, delayed puberty, and Cushingoid features, is a rare diabetic complication. We report a case of hepatic glycogenosis mimicking Mauriac syndrome. A 14-year-old girl with poorly controlled type 1 DM was admitted to The Catholic University of Korea, Seoul St...
June 2015: Korean Journal of Pediatrics
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
Joan Sanchez-de-Toledo, Sebastià González-Peris, Ferran Gran, Angela Gregoraci, Joan Carles Ferreres, Cèsar W Ruiz, Joan Balcells, Raul F Abella
Transposition of the great arteries with intact ventricular septum and persistent pulmonary hypertension (TGA-IVS PPHN) is a rare association with a poor prognosis. We report the case of a term newborn with TGA-IVS PPHN successfully managed with perioperative extracorporeal membrane oxygenation (ECMO) and aggressive pulmonary vasodilation therapy that underwent successful arterial switch procedure. A lung biopsy obtained during the surgical procedure showed pulmonary interstitial glycogenosis, a reversible condition...
July 2015: World Journal for Pediatric & Congenital Heart Surgery
Nizar Ben Halim, Sana Hsouna, Khaled Lasram, Insaf Rejeb, Asma Walha, Faten Talmoudi, Habib Messai, Ahlem Sabrine Ben Brick, Houyem Ouragini, Wafa Cherif, Majdi Nagara, Faten Ben Rhouma, Ibtissem Chouchene, Farah Ouechtati, Yosra Bouyacoub, Mariem Ben Rekaya, Olfa Messaoud, Slim Ben Ammar, Leila El Matri, Neji Tebib, Marie F Ben Dridi, Mourad Mokni, Ahlem Amouri, Rym Kefi, Sonia Abdelhak
OBJECTIVES: Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact of consanguineous marriages on the occurrence of some specific autosomal recessive disorders and consider how other factors, such as population substructure and mutation frequency, may be of equal importance in disease prevalence. METHODS: Consanguinity profiles were retrospectively studied among 425 Tunisian patients suffering from autosomal recessive xeroderma pigmentosum, dystrophic epidermolysis bullosa, nonsyndromic retinitis pigmentosa, Gaucher disease, Fanconi anemia, glycogenosis type I, and ichthyosis, and compared to those of a healthy control sample...
March 2016: American Journal of Human Biology: the Official Journal of the Human Biology Council
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