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glycogen storage disease

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https://www.readbyqxmd.com/read/28542051/critical-airway-stenosis-in-an-adolescent-male-with-pompe-disease-and-thoracic-lordosis-a-case-report
#1
B Randall Brenn, Mary T Theroux, Suken A Shah, William G Mackenzie, Robert Heinle, Mena T Scavina
An adolescent male with late-onset Pompe disease (glycogen storage disease type II) presented with a history of restrictive airway disease and a near-cardiorespiratory arrest during anesthesia for a liver biopsy initially thought to be due to bronchospasm. During a subsequent posterior spinal fusion procedure, he suffered cardiorespiratory arrest resulting in the procedure being aborted. Bronchoscopy performed shortly after resuscitation revealed an undiagnosed narrowing of the distal trachea and bronchi. This is the first description of a patient with lateonset Pompe disease with undiagnosed critical tracheal stenosis due to the progression of thoracic lordosis, which was ultimately relieved by posterior spinal fusion...
May 23, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28511025/co-inheritance-of-the-membrane-frizzled-related-protein-ocular-phenotype-and-glycogen-storage-disease-type-ib
#2
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, Sana Al Zuhaibi, Patrick Scott, Sami Al Kalbani, Khalid Al Thihli
AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. BACKGROUND: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region...
May 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28502559/3-utr-snp-rs2229611-in-g6pc1-affects-mrna-stability-expression-and-glycogen-storage-disease-type-ia-risk
#3
Sellamuthu Karthi, Mohan Rajeshwari, Amirtharaj Francis, Matheshwaran Saravanan, Perumal Varalakshmi, Henry Houlden, Kumarasamy Thangaraj, Balasubramaniem Ashokkumar
The frequency of rs2229611, previously reported in Chinese, Caucasians, Japanese and Hispanics, was investigated for the first time in Indian ethnicity. We analyzed its role in the progression of Glycogen Storage Disease type-Ia (GSD-Ia) and breast cancer. Genotype data on rs2229611 revealed that the risk of GSD-Ia was higher (P=0.0195) with CC compared to TT/TC genotypes, whereas no such correlation was observed with breast cancer cases. We observed a strong linkage disequilibrium (LD) among rs2229611 and other disease causing G6PC1 variants (|D'|=1, r(2)=1)...
May 11, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28497716/polyglucosan-bodies-in-placental-extravillious-trophoblast-for-the-diagnosis-of-fatal-perinatal-neuromuscular-type-glycogen-storage-disease-type-iv
#4
Weiming Yu, Marie-Anne Brundler, James R Wright
The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type 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 (PAS)-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease IV with extensive involvement of skeletal muscle, heart, and liver...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28482395/-one-case-of-x-linked-recessive-glycogen-storage-disease-type-ixa
#5
H M Guo, B X Zheng, M Li
No abstract text is available yet for this article.
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28458779/genetic-disorders-in-beef-cattle-a-review
#6
REVIEW
Aleksandra Ciepłoch, Karolina Rutkowska, Jolanta Oprządek, Ewa Poławska
The main purpose of present review is to describe and organize autosomal recessive disorders (arachnomelia, syndactylism, osteopetrosis, dwarfism, crooked tail syndrome, muscular hyperplasia, glycogen storage disease, protoporphyria), which occur among beef cattle, and methods that can be applied to detect these defects. Prevalence of adverse alleles in beef breeds happens due to human activity-selections of favorable features, e.g. developed muscle tissue. Unfortunately, carriers of autosomal recessive diseases are often characterized by these attributes...
2017: Genes & Genomics
https://www.readbyqxmd.com/read/28453664/glycogen-synthesis-in-glycogenin-1-deficient-patients-a-role-for-glycogenin-2-in-muscle
#7
Thomas O Krag, Cristina Ruiz Ruiz, John Vissing
Context: Glycogen storage disease type XV (GSD XV) is a rare disease caused by mutations in the GYG1 gene that codes for the core molecule of muscle glycogen, glycogenin 1. Nonetheless, glycogen is present in muscles of glycogenin 1 deficient patients, suggesting an alternative for glycogen build-up. A likely candidate is glycogenin 2, an isoform expressed in liver and heart, but not in healthy skeletal muscle. Objective: We wanted to investigate the formation of glycogen and changes in glycogen metabolism in patients with GSD XV...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28400468/the-diagnostic-value-of-hyperammonaemia-induced-by-the-non-ischaemic-forearm-exercise-test
#8
Jean-Yves Hogrel, Jorien B E Janssen, Isabelle Ledoux, Gwenn Ollivier, Anthony Béhin, Tanya Stojkovic, Bruno Eymard, Nicol C Voermans, Pascal Laforet
AIMS: The non-ischaemic forearm exercise test (NIFET) is used as a diagnostic tool for the screening of patients with exercise intolerance and for the diagnosis of various metabolic muscle disorders. The production of lactate and ammonia are generally analysed to guide the diagnosis. The aim of this retrospective study was to determine the level of ammonia rise, which can be suggestive of a muscle disease. METHODS: This retrospective study involved 1440 patients who underwent NIFET...
April 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28397058/clinical-and-biochemical-heterogeneity-between-patients-with-glycogen-storage-disease-type-ia-the-added-value-of-cusum-for-metabolic-control
#9
Fabian Peeks, Thomas A H Steunenberg, Foekje de Boer, M Estela Rubio-Gozalbo, Monique Williams, Rob Burghard, Fabienne Rajas, Maaike H Oosterveer, David A Weinstein, Terry G J Derks
OBJECTIVE: To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase). STUDY DESIGN: Descriptive retrospective study of longitudinal clinical and biochemical data and long-term complications in 20 GSD Ia patients. We included 11 patients with homozygous G6PC mutations and siblings from four families carrying identical G6PC genotypes...
April 10, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28389590/cutting-edge-increased-autoimmunity-risk-in-glycogen-storage-disease-type-1b-is-associated-with-a-reduced-engagement-of-glycolysis-in-t-cells-and-an-impaired-regulatory-t-cell-function
#10
Daniela Melis, Fortunata Carbone, Giorgia Minopoli, Claudia La Rocca, Francesco Perna, Veronica De Rosa, Mario Galgani, Generoso Andria, Giancarlo Parenti, Giuseppe Matarese
Glycogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucose-6-phosphate transporter and characterized by altered glycogen/glucose homeostasis. A higher frequency of autoimmune diseases has been observed in GSD-1b patients, but the molecular determinants leading to this phenomenon remain unknown. To address this question, we investigated the effect of glucose-6-phosphate transporter mutation on immune cell homeostasis and CD4(+) T cell functions. In GSD-1b subjects, we found lymphopenia and a reduced capacity of T cells to engage glycolysis upon TCR stimulation...
May 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28382841/hepatocellular-carcinoma-in-fanconi-bickel-syndrome
#11
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/28375114/investigation-of-repressive-and-enhancive-effects-of-fruit-extracts-on-the-activity-of-glucose-6-phophatase
#12
Muhammad Zahoor, Muhammad Rasul Jan, Sumaira Naz
Glucose-6-phosphatase is a key enzyme of glucose metabolic pathways. Deficiency of this enzyme leads to glycogen storage disease. This enzyme also plays a negative role in diabetes mellitus disorder in which the catalytic activity of this enzyme increases. Thus there is need for activators to enhance the activity of glucose-6-phosphatase in glycogen storage disease of type 1b while in diabetes mellitus repressors are needed to reduce its activity. Crude extracts of apricot, fig, mulberry and apple fruits were investigated for their repressive/enhancive effects on glucose-6-phosphatase in vivo...
November 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28374256/analysis-of-magnetic-resonance-imaging-findings-of-children-with-neurologic-complications-after-liver-transplantation
#13
Mehmet Öztürk, İsmail Akdulum, Nurullah Dağ, Ahmet Sığırcı, Serdal Güngör, Sezai Yılmaz
OBJECTIVE: To analyze the magnetic resonance imaging findings in children diagnosed with neurologic complications after liver transplantation (LT). MATERIALS AND METHODS: A total of 39 patients diagnosed with neurologic complications following LT between 2010 and 2016. Neuroradiologic imaging was performed using cranial magnetic resonance imaging (MRI). Descriptive statistics regarding age, gender, type of complication, diagnostic and therapeutic modalities were calculated and presented as number and percentage...
April 3, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28360385/molecular-analysis-of-glycogen-storage-disease-type-ia-in-iranian-azeri-turks-identification-of-a-novel-mutation
#14
Shekari Khaniani Mahmoud, Aziz Khorrami, Mandana Rafeey, Robabeh Ghergherehchi, Mansoori Derakhshan Sima
Glycogen storage diseases (GSDs) are caused by abnormalities in enzymes that are involved in the regulation of gluconeogenesis and glycogenolysis. GSD I, an autosomal recessive metabolic disorder, is the most common GSD and has four subtypes. Here, we examined GSD Ia caused by the defective glucose-6-phosphatase catalytic (G6PC) gene. We investigated the frequency of GSD Ia and clarified its molecular aspect in patients with the main clinical and biochemical characteristics of GSD, including 37 unrelated patients with a mean age of three years at the time of diagnosis...
March 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28341561/duvoglustat-hcl-increases-systemic-and-tissue-exposure-of-active-acid-%C3%AE-glucosidase-in-pompe-patients-co-administered-with-alglucosidase-%C3%AE
#15
Priya Kishnani, Mark Tarnopolsky, Mark Roberts, Kumarswamy Sivakumar, Majed Dasouki, Mazen M Dimachkie, Erika Finanger, Ozlem Goker-Alpan, Karl A Guter, Tahseen Mozaffar, Muhammad Ali Pervaiz, Pascal Laforet, Todd Levine, Matthews Adera, Richard Lazauskas, Sheela Sitaraman, Richie Khanna, Elfrida Benjamin, Jessie Feng, John J Flanagan, Jay Barth, Carrolee Barlow, David J Lockhart, Kenneth J Valenzano, Pol Boudes, Franklin K Johnson, Barry Byrne
Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. The current standard of care is enzyme replacement therapy with recombinant human GAA (alglucosidase alfa [AA], Genzyme). Based on preclinical data, oral co-administration of duvoglustat HCl with AA increases exposure of active levels in plasma and skeletal muscles, leading to greater substrate reduction in muscle...
May 3, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28334808/downregulation-of-pathways-implicated-in-liver-inflammation-and-tumorigenesis-of-glycogen-storage-disease-type-ia-mice-receiving-gene-therapy
#16
Goo-Young Kim, Joon Hyun Kwon, Jun-Ho Cho, Lisa Zhang, Brian C Mansfield, Janice Y Chou
Glycogen storage disease type Ia (GSD-Ia) is characterized by impaired glucose homeostasis and long-term risks of hepatocellular adenoma (HCA) and carcinoma (HCC). We have shown that the non-tumor-bearing (NT), recombinant adeno-associated virus (rAAV) vector-treated GSD-Ia mice (AAV-NT mice) expressing a wide range (0.9-63%) of normal hepatic glucose-6-phosphatase-α activity maintain glucose homeostasis and display physiologic features mimicking animals living under calorie restriction (CR). We now show that in AAV-NT mice, the signaling pathways of the CR mediators, AMP-activated protein kinase (AMPK) and sirtuin-1 are activated...
May 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28317891/hepatic-mitochondrial-dysfunction-is-a-feature-of-glycogen-storage-disease-type-ia-gsdia
#17
Benjamin L Farah, Rohit A Sinha, Yajun Wu, Brijesh K Singh, Andrea Lim, Masahiro Hirayama, Dustin J Landau, Boon Huat Bay, Dwight D Koeberl, Paul M Yen
Glycogen storage disease type Ia (GSDIa, von Gierke disease) is the most common glycogen storage disorder. It is caused by the deficiency of glucose-6-phosphatase, an enzyme which catalyses the final step of gluconeogenesis and glycogenolysis. Clinically, GSDIa is characterized by fasting hypoglycaemia and hepatic glycogen and triglyceride overaccumulation. The latter leads to steatohepatitis, cirrhosis, and the formation of hepatic adenomas and carcinomas. Currently, little is known about the function of various organelles and their impact on metabolism in GSDIa...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28317262/hydroxytyrosol-restores-proper-insulin-signaling-in-an-astrocytic-model-of-alzheimer-s-disease
#18
M Carmen Crespo, Joao Tomé-Carneiro, Cristina Pintado, Alberto Dávalos, Francesco Visioli, Emma Burgos-Ramos
Recent epidemiological evidence demonstrated that diabetes is a risk factor for AD onset and development. Indeed, meta-analyses of longitudinal epidemiologic studies show that diabetes increases AD risk by 50-100%, being insulin resistance (IR) the main binding link between diabetes and AD. Astrocytes are the foremost cerebral macroglial cells and are responsible for converting glucose into lactate and transfer it to neurons that use it as fuel, but Aβ(1-42) impairs insulin signaling and glycogen storage. Recent prospective studies showed that the Mediterranean diet is associated with lower incidence of AD...
March 20, 2017: BioFactors
https://www.readbyqxmd.com/read/28283841/clinical-and-molecular-variability-in-patients-with-phka2-variants-and-liver-phosphorylase-b-kinase-deficiency
#19
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/28275655/neural-correlates-of-adaptive-working-memory-training-in-a-glycogen-storage-disease-type-iv-patient
#20
Kristin Lee, Thomas Ernst, Gro Løhaugen, Xin Zhang, Linda Chang
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. On functional MRI, he showed increased cortical activation 1-3 months after training, but both increased and decreased activation 6-months later...
March 2017: Annals of Clinical and Translational Neurology
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