keyword
MENU ▼
Read by QxMD icon Read
search

Glycogenosis

keyword
https://www.readbyqxmd.com/read/28494553/-glycogenosis-type-ix-caused-by-a-novel-mutation-of-phosphorylase-kinase-%C3%AE-subunit-a-family-analysis
#1
M H Zhang, H J Wang, P Zhang, J Y Gong, J S Wang
No abstract text is available yet for this article.
April 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/28490439/skeletal-muscle-metabolism-during-prolonged-exercise-in-pompe-disease
#2
Nicolai Preisler, Pascal Laforet, Karen Lindhardt Madsen, Edith Husu, Christoffer Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing
OBJECTIVE: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown. In spite of enzyme replacement therapy, Pompe disease continues to be a progressive metabolic myopathy. Considering the health benefits of exercise, it is important in Pompe disease to acquire more information about muscle substrate use during exercise. METHODS: Seven adults with Pompe disease were matched to a healthy control group (1:1)...
May 10, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28444756/e7-1057%C3%AE-ta-mutation-of-the-acidic-%C3%AE-glucosidase-gene-causes-pompe-s-disease-in-droughtmaster-cattle
#3
R E Lyons, D J Johnston, M R McGowan, A Laing, B Robinson, H Owen, B D Hill, B M Burns
OBJECTIVE: To determine whether known loss-of-function alleles of the acidic α-glucosidase gene (GAA) are present in the Droughtmaster breed and, if so, whether the clinical signs and pathology of generalised glycogenosis (Pompe's disease) previously reported in other affected cattle are also seen in homozygous Droughtmasters. DESIGN: Existing genomic and other diagnostic tests developed for generalised glycogenosis in cattle were used to test for the presence of the three known loss-of-function alleles of GAA in a herd of Droughtmaster cattle...
May 2017: Australian Veterinary Journal
https://www.readbyqxmd.com/read/28431061/high-prevalence-of-arrhythmic-and-myocardial-complications-in-patients-with-cardiac-glycogenosis-due-to-prkag2-mutations
#4
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...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28382841/hepatocellular-carcinoma-in-fanconi-bickel-syndrome
#5
Jennifer Pogoriler, Allison F O'Neill, Stephan D Voss, Robert C Shamberger, Antonio R Perez-Atayde
Fanconi-Bickel syndrome is a rare autosomal recessive disorder due to mutations in the facilitative glucose transporter 2 ( GLUT2 or SLC2A2) gene resulting in excessive glycogen storage predominantly in the liver and kidney. Previous case reports of this condition have described liver biopsies with glycogen storage and variable steatosis and/or fibrosis. Unlike in other types of glycogen storage disease, hepatocellular adenomas and carcinomas have not been described to date in this syndrome. A 6-year-old boy with consanguineous parents had short stature, poorly controlled rickets, hepatosplenomegaly, and renal tubular dysfunction clinically consistent with Fanconi-Bickel Syndrome...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28283841/clinical-and-molecular-variability-in-patients-with-phka2-variants-and-liver-phosphorylase-b-kinase-deficiency
#6
Deeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, Stephanie Austin, Surekha Pendyal, Catherine Rehder, Priya S Kishnani
Glycogen storage disease (GSD) type IX is a rare disease of variable clinical severity affecting primarily the liver tissue. Individuals with liver phosphorylase b kinase (PhK) deficiency (GSD IX) can present with hepatomegaly with elevated serum transaminases, ketotic hypoglycemia, hyperlipidemia, and poor growth with considerable variation in clinical severity. PhK is a cAMP-dependent protein kinase that phosphorylates the inactive form of glycogen phosphorylase, phosphorylase b, to produce the active form, phosphorylase a...
March 12, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28245189/the-variable-clinical-phenotype-of-three-patients-with-hepatic-glycogen-synthase-deficiency
#7
Çiğdem Seher Kasapkara, Zehra Aycan, Esma Açoğlu, Saliha Senel, Melek Melahat Oguz, Serdar Ceylaner
BACKGROUND: Glycogen synthase deficiency, also known as glycogenosis (GSD) type 0 is an inborn error of glycogen metabolism caused by mutations in the GYS2 gene, which is transmitted in an autosomal recessive trait. It is a rare form of hepatic glycogen storage disease with less than 30 cases reported in the literature so far. The disorder is characterized by fasting hyperketotic hypoglycemia without hyperalaninemia or hyperlactacidemia. It is a glycogenosis with lack of liver glycogen synthesis, therefore hepatomegaly is not observed in patients with glycogen synthase deficiency...
April 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28242437/congenital-hyperinsulinism-and-glycogenosis-like-phenotype-due-to-a-novel-hnf4a-mutation
#8
Juraj Stanik, Martina Skopkova, Katarina Brennerova, Daniel Danis, Monika Rosolankova, Anna Salingova, Vladimir Bzduch, Iwar Klimes, Daniela Gasperikova
AIM: Congenital hyperinsulinism (CHI) and glycogen storage disease (glycogenosis) are both causing hypoglycemia during infancy, but with different additional clinical features and therapeutic approach. We aimed to identify a genetic cause in a child with an ambiguous phenotype. METHODS AND RESULTS: We present a child with hyperinsulinemic hypoglycemia, physiological 3-OH butyrate, increased triglyceride serum levels, increased level of glycogen in erythrocytes, increased liver transaminases, and increased echogenicity on liver ultrasonography...
February 16, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27745935/-insulin-edema-in-hepatic-glycogenosis
#9
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
https://www.readbyqxmd.com/read/27663060/what-have-we-learned-about-glycogenosis-in-recent-years
#10
REVIEW
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
https://www.readbyqxmd.com/read/27351072/pgm1-deficiency-diagnosed-during-an-endocrine-work-up-of-low-igf-1-mediated-growth-failure
#11
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...
December 2016: Acta Clinica Belgica
https://www.readbyqxmd.com/read/27280431/differential-glucose-metabolism-in-mice-and-humans-affected-by-mcardle-disease
#12
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
https://www.readbyqxmd.com/read/27197936/pulmonary-interstitial-glycogenosis-in-a-patient-with-trisomy-21
#13
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
https://www.readbyqxmd.com/read/27189955/high-prevalence-of-arrhythmic-and-myocardial-complications-in-patients-with-cardiac-glycogenosis-due-to-prkag2-mutations
#14
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
https://www.readbyqxmd.com/read/27106218/antenatal-manifestations-of-inborn-errors-of-metabolism-autopsy-findings-suggestive-of-a-metabolic-disorder
#15
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/27030740/differential-muscle-involvement-in-mice-and-humans-affected-by-mcardle-disease
#16
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
https://www.readbyqxmd.com/read/26977970/lipofibroblast-phenotype-in-pulmonary-interstitial-glycogenosis
#17
COMMENT
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
https://www.readbyqxmd.com/read/26800218/next-generation-sequencing-detection-of-late-onset-pompe-disease
#18
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
https://www.readbyqxmd.com/read/26627264/focal-hepatic-glycogenosis-associated-with-metastatic-insulinoma-presenting-as-mass-lesions
#19
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
https://www.readbyqxmd.com/read/26495172/irreversible-respiratory-failure-in-a-full-term-infant-with-features-of-pulmonary-interstitial-glycogenosis-as-well-as-bronchopulmonary-dysplasia
#20
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
keyword
keyword
50494
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"