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Glycogenosis type I

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https://www.readbyqxmd.com/read/27106218/antenatal-manifestations-of-inborn-errors-of-metabolism-autopsy-findings-suggestive-of-a-metabolic-disorder
#1
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
https://www.readbyqxmd.com/read/26179682/differential-impact-of-consanguineous-marriages-on-autosomal-recessive-diseases-in-tunisia
#2
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
https://www.readbyqxmd.com/read/25880557/quantitative-analysis-of-proteins-of-metabolism-by-reverse-phase-protein-microarrays-identifies-potential-biomarkers-of-rare-neuromuscular-diseases
#3
Fulvio Santacatterina, Margarita Chamorro, Cristina Núñez de Arenas, Carmen Navarro, Miguel A Martín, José M Cuezva, María Sánchez-Aragó
BACKGROUND: Muscle diseases have been associated with changes in the expression of proteins involved in energy metabolism. To this aim we have developed a number of monoclonal antibodies against proteins of energy metabolism. METHODS: Herein, we have used Reverse Phase Protein Microarrays (RPMA), a high throughput technique, to investigate quantitative changes in protein expression with the aim of identifying potential biomarkers in rare neuromuscular diseases. A cohort of 73 muscle biopsies that included samples from patients diagnosed of Duchenne (DMD), Becker (BMD), symptomatic forms of DMD and BMD in female carriers (Xp21 Carriers), Limb Girdle Muscular Dystrophy Type 2C (LGMD2C), neuronal ceroid lipofuscinosis (NCL), glycogenosis type V (Mc Ardle disease), isolated mitochondrial complex I deficiency, intensive care unit myopathy and control donors were investigated...
2015: Journal of Translational Medicine
https://www.readbyqxmd.com/read/25779134/quantitative-analysis-of-proteins-of-metabolism-by-reverse-phase-protein-microarrays-identifies-potential-biomarkers-of-rare-neuromuscular-diseases
#4
Fulvio Santacatterina, Margarita Chamorro, Cristina Núñez de Arenas, Carmen Navarro, Miguel A Martín, José M Cuezva, María Sánchez-Aragó
BACKGROUND: Muscle diseases have been associated with changes in the expression of proteins involved in energy metabolism. To this aim we have developed a number of monoclonal antibodies against proteins of energy metabolism. METHODS: Herein, we have used Reverse Phase Protein Microarrays (RPMA), a high throughput technique, to investigate quantitative changes in protein expression with the aim of identifying potential biomarkers in rare neuromuscular diseases. A cohort of 73 muscle biopsies that included samples from patients diagnosed of Duchenne (DMD), Becker (BMD), symptomatic forms of DMD and BMD in female carriers (Xp21 Carriers), Limb Girdle Muscular Dystrophy Type 2C (LGMD2C), neuronal ceroid lipofuscinosis (NCL), glycogenosis type V (Mc Ardle disease), isolated mitochondrial complex I deficiency, intensive care unit myopathy and control donors were investigated...
2015: Journal of Translational Medicine
https://www.readbyqxmd.com/read/25740218/diagnostic-power-of-the-non-ischaemic-forearm-exercise-test-in-detecting-glycogenosis-type-v
#5
J-Y Hogrel, F van den Bogaart, I Ledoux, G Ollivier, F Petit, N Koujah, A Béhin, T Stojkovic, B Eymard, N Voermans, P Laforêt
BACKGROUND AND PURPOSE: This was a retrospective study to assess the diagnostic value of the non-ischaemic forearm exercise test in detecting McArdle's disease. METHODS: The study is a retrospective diagnostic study over 15 years (1999-2013) on a referred sample of patients suffering from exercise intolerance and various muscle complaints, generally with elevated creatine kinase (CK). In all, 1226 patients underwent the non-ischaemic forearm exercise test. Blood lactate, ammonia and CK levels were analyzed...
June 2015: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/25323875/late-onset-glycogen-storage-disease-type-2
#6
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
https://www.readbyqxmd.com/read/25168163/mutations-in-hereditary-phosphoglucomutase-1-deficiency-map-to-key-regions-of-enzyme-structure-and-function
#7
REVIEW
Lesa J Beamer
Recent studies have identified phosphoglucomutase 1 (PGM1) deficiency as an inherited metabolic disorder in humans. PGM1 deficiency is classified as both a muscle glycogenosis (type XIV) and a congenital disorder of glycosylation of types I and II. Affected patients show multiple disease phenotypes, reflecting the central role of the enzyme in glucose homeostasis, where it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. The influence of PGM1 deficiency on protein glycosylation patterns is also widespread, affecting both biosynthesis and processing of glycans and their precursors...
March 2015: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/24781183/-cochlear-implantation-in-immunocompromised-patients
#8
M V Goĭkhburg, V V Zherenkova, T I Chugunova, A A Iasinskaia, V V Bakhshinian
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...
2014: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/24683476/continuous-glucose-monitoring-in-the-treatment-of-obesity-in-patients-with-glycogen-storage-disease-type-ia
#9
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
https://www.readbyqxmd.com/read/24607438/biodistribution-of-adult-derived-human-liver-stem-cells-following-intraportal-infusion-in-a-17-year-old-patient-with-glycogenosis-type-1a
#10
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
https://www.readbyqxmd.com/read/24008051/the-french-pompe-registry-baseline-characteristics-of-a-cohort-of-126-patients-with-adult-pompe-disease
#11
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
https://www.readbyqxmd.com/read/23507172/exercise-intolerance-in-glycogen-storage-disease-type-iii-weakness-or-energy-deficiency
#12
Nicolai Preisler, Agnès Pradel, Edith Husu, Karen Lindhardt Madsen, Marie-Hélène Becquemin, Alix Mollet, Philippe Labrune, Francois Petit, Jean-Yves Hogrel, Claude Jardel, Francois Maillot, John Vissing, Pascal Laforêt
Myopathic symptoms in Glycogen Storage Disease Type IIIa (GSD IIIa) are generally ascribed to the muscle wasting that these patients suffer in adult life, but an inability to debranch glycogen likely also has an impact on muscle energy metabolism. We hypothesized that patients with GSD IIIa can experience exercise intolerance due to insufficient carbohydrate oxidation in skeletal muscle. Six patients aged 17-36-years were studied. We determined VO 2peak (peak oxygen consumption), the response to forearm exercise, and the metabolic and cardiovascular responses to cycle exercise at 70% of VO 2peak with either a saline or a glucose infusion...
May 2013: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/23503397/-immediate-and-long-term-results-of-partial-related-liver-transplantation-by-glycogenosis-type-i-the-first-russian-experience
#13
A V Semenkov, A V Filin, T M Ashuba, A Ia Keligova, A V Metelin, A V Varlamov, A I Vinnitskiĭ, M M Morozova
No abstract text is available yet for this article.
2013: Khirurgiia
https://www.readbyqxmd.com/read/22976764/a-novel-congenital-disorder-of-glycosylation-type-without-central-nervous-system-involvement-caused-by-mutations-in-the-phosphoglucomutase-1-gene
#14
Belén Pérez, Celia Medrano, Maria Jesus Ecay, Pedro Ruiz-Sala, Mercedes Martínez-Pardo, Magdalena Ugarte, Celia Pérez-Cerdá
Recent years have seen great advances in our knowledge of congenital disorders of glycosylation (CDG), a clinically and biochemically heterogeneous group of genetic diseases caused by defects in the synthesis (CDG-I) or processing (CDG-II) of glycans that form glycoconjugates. This paper reports a new subtype of non-neurological CDG involving the impaired cytoplasmic biosynthesis of nucleotide sugars needed for glycan biosynthesis. A patient presented with muscle fatigue, elevated creatine kinase, growth hormone deficiency, and first branchial arch syndrome...
May 2013: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/22730558/knock-in-mice-for-the-r50x-mutation-in-the-pygm-gene-present-with-mcardle-disease
#15
Gisela Nogales-Gadea, Tomàs Pinós, Alejandro Lucia, Joaquín Arenas, Yolanda Camara, Astrid Brull, Noemí de Luna, Miguel A Martín, Elena Garcia-Arumí, Ramon Martí, Antoni L Andreu
McArdle disease (glycogenosis type V), the most common muscle glycogenosis, is a recessive disorder caused by mutations in PYGM, the gene encoding myophosphorylase. Patients with McArdle disease typically experience exercise intolerance manifested as acute crises of early fatigue and contractures, sometimes with rhabdomyolysis and myoblobinuria, triggered by static muscle contractions or dynamic exercises. Currently, there are no therapies to restore myophosphorylase activity in patients. Although two spontaneous animal models for McArdle disease have been identified (cattle and sheep), they have rendered a limited amount of information on the pathophysiology of the disorder; therefore, there have been few opportunities for experimental research in the field...
July 2012: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/22492103/clinical-guidelines-for-late-onset-pompe-disease
#16
REVIEW
M A Barba-Romero, E Barrot, J Bautista-Lorite, E Gutierrez-Rivas, I Illa, L M Jimenez, M Ley-Martos, A Lopez de Munain, J Pardo, S I Pascual-Pascual, J Perez-Lopez, J Solera, J J Vilchez-Padilla
Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific treatment for this illness. The aim of this guide is to serve as reference for the management of the late-onset Pompe disease, the type of Pompe disease that develops after one year of age. In the guide a group of Spanish experts make specific recommendations about diagnosis, follow-up and treatment of this illness...
April 16, 2012: Revista de Neurologia
https://www.readbyqxmd.com/read/21844581/a-novel-phka2-gross-deletion-mutation-in-a-korean-patient-with-x-linked-liver-glycogenosis-type-i
#17
Kyoung-Jin Park, Hyung-Doo Park, Soo-Youn Lee, Chang-Seok Ki, Yon-Ho Choe
X-linked liver glycogenosis (XLG) is caused by a mutation in the PHKA2 gene which encodes the alpha subunit of phosphorylase kinase (PHK). Although XLG is not a rare disease, there have been no reports of PHKA2 mutations in Koreans. A 5-year-old boy presented with easy fatigability and hepatomegaly. Liver enzymes were increased and liver histology revealed deposition of glycogen. The PHK activity was markedly decreased compared to control. No amplification was observed at exon 8 of the PHKA2 gene, as a result of the deletion of exon 8...
2011: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/21744292/treatment-of-acute-heart-failure-using-levosimendan-for-a-patient-with-dilated-cardiomyopathy-chronic-renal-failure-and-hypertension
#18
Pablo Lobo Martínez, Ignacio Oulego Erroz, Sandra Gautreux Minaya, Luis Miguel Rodríguez Fernández
The clinical and hemodynamic effects of compassionate therapy with levosimendan were evaluated in a 14-year-old patient with end-stage renal disease and arterial hypertension secondary to glycogenosis type Ia. The patient previously had normal heart function but experienced acute development of severe myocardial dysfunction resistant to diuretic therapy and inotropic support. Levosimendan administration was followed by a marked clinical and echocardiographic improvement. The authors believe that levosimendan may be useful for cases of resistant acute heart failure with arterial hypertension...
October 2011: Pediatric Cardiology
https://www.readbyqxmd.com/read/21599942/glucose-6-phosphatase-deficiency
#19
REVIEW
Roseline Froissart, Monique Piraud, Alix Mollet Boudjemline, Christine Vianey-Saban, François Petit, Aurélie Hubert-Buron, Pascale Trioche Eberschweiler, Vincent Gajdos, Philippe Labrune
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between the ages of 3 to 4 months by symptoms of hypoglycemia (tremors, seizures, cyanosis, apnea)...
2011: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/21463994/-evaluation-of-a-fluorimetric-for-determining-the-activity-of-amylo-1-6-glucosidase-in-leukocytes-for-confirming-the-diagnosis-of-glycogen-storage-disease-type-iii
#20
Hanène Miadi-Messaoud, Amira Mili, Hammadi Ben Khalifa, Khalifa Limem
The confirmation of type III glycogen storage disease diagnosis is based on histological explorations on to live and/or muscle biopsies that induce some problems of delay and sensitivity. The purpose of this study was to evaluate a fluorimetric technique for the determination of amylo-1,6-glucosidase activity in leukocytes, in order to confirm the diagnosis of type III glycogen storage disease. The method consists in measuring the glucose released by hydrolysis of phosphorylase dextrin limit in the presence of cellular extracts, in 50 volunteers and 18 patients suspected of glycogenosis...
January 2011: Annales de Biologie Clinique
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