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Glycogen storage diseases

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https://www.readbyqxmd.com/read/29663456/label-free-identification-of-myopathological-features-with-coherent-anti-stokes-raman-scattering
#1
Daniel Niedieker, Frederik Großerüschkamp, Anja Schreiner, Katalin Barkovits, Carsten Kötting, Katrin Marcus, Klaus Gerwert, Matthias Vorgerd
INTRODUCTION: The aim of this study was the label-free identification of distinct myopathological features with coherent anti-Stokes Raman scattering (CARS) imaging, which leaves the sample intact for further analysis. METHODS: The protein distribution was determined without labels by CARS at 2930 cm-1 and was compared with the results of standard histological staining. RESULTS: CARS imaging enabled the visualization of glycogen accumulation in glycogen storage disease type 5 (McArdle) and of internal nuclei in centronuclear myopathy...
April 16, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29663270/molecular-biology-and-gene-therapy-for-glycogen-storage-disease-type-ib
#2
Janice Y Chou, Jun-Ho Cho, Goo-Young Kim, Brian C Mansfield
Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously expressed glucose-6-phosphate (G6P) transporter (G6PT or SLC37A4). The primary function of G6PT is to translocate G6P from the cytoplasm into the lumen of the endoplasmic reticulum (ER). Inside the ER, G6P is hydrolyzed to glucose and phosphate by either the liver/kidney/intestine-restricted glucose-6-phosphatase-α (G6Pase-α) or the ubiquitously expressed G6Pase-β. A deficiency in G6Pase-α causes GSD type Ia (GSD-Ia) and a deficiency in G6Pase-β causes GSD-I-related syndrome (GSD-Irs)...
April 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29663268/dental-and-periodontal-manifestations-of-glycogen-storage-diseases-a-case-series-of-60-patients
#3
Martin Biosse Duplan, Aurélie Hubert, Elvire Le Norcy, Alice Louzoun, Ariane Perry, Catherine Chaussain, Philippe Labrune
Glycogen storage diseases (GSDs) are rare genetic disorders of glycogen metabolism where the liver, kidneys, respiratory and cardiac muscles, as well as the immune and skeletal systems can be affected. Oral manifestations can also be present, but the specificity and frequency of these manifestations in the different forms of GSD are unknown. Analysis of a case series of 60 patients presenting four types of GSD (Ia, Ib, III, and IX) showed that the different types of GSDs have common and specific oral manifestations...
April 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29652549/prolonged-granulocyte-colony-stimulating-factor-use-in-glycogen-storage-disease-type-1b-associated-with-acute-myeloid-leukemia-and-with-shortened-telomere-length
#4
Amanda M Li, Santhosh Thyagu, Dawn Maze, Richard Schreiber, Sandra Sirrs, Sylvia Stockler-Ipsiroglu, Heather Sutherland, Suzanne Vercauteren, Kirk R Schultz
Glycogen storage disease (GSD) type 1 is a rare autosomal recessive inherited condition. The 1b subtype comprises the minority of cases, with an estimated prevalence of 1 in 500,000 children. Patients with glycogen storage disease type 1b are often treated with granulocyte colony stimulating factor (G-CSF) for prolonged periods to improve symptoms of inflammatory bowel disease (IBD) and in the face of severe neutropenia to decrease risk of infection. Long-term G-CSF treatment may result in an increased risk of myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) possibly due to increased marrow stress resulting in telomere shortening...
April 13, 2018: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29614965/genetic-analysis-and-clinical-assessment-of-four-patients-with-glycogen-storage-disease-type-iiia-in-china
#5
Yu Zhang, Mingming Xu, Xiaoxia Chen, Aijuan Yan, Guoyong Zhang, Zhenguo Liu, Wenjuan Qiu
BACKGROUND: Glycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by AGL gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutation of AGL among different ethnic groups. However, GSD III is rarely reported in Chinese population. CASE PRESENTATION: In this study, we aimed to study the genetic and clinical characteristics of four patients with GSD IIIa from China, especially the neurological manifestations...
April 4, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29614584/-glycogen-storage-disease-type-%C3%A2-a-a-rare-cause-of-gout-in-adolescent-and-young-adult-patients
#6
N Xu, X M Huang, W G Fang, Y Zhang, Z Q Qiu, X J Zeng
Objective: To analyze the clinical features of secondary gout in glycogen storage disease type Ⅰa (GSD Ⅰa), so as to improve the awareness of this disease. Methods: The clinical features, laboratory findings, treatments and prognosis of 5 GSD Ⅰa patients with secondary gout who had been admitted to the Peking Union Medical College Hospital during 2006 to 2016 were collected and analyzed. GSD Ⅰa was confirmed by liver biopsy and genotyping. Results: Among the 5 patients (median age: 27 years), 3 were males and 2 were females...
April 1, 2018: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29600495/a-preliminary-study-of-telemedicine-for-patients-with-hepatic-glycogen-storage-disease-and-their-healthcare-providers-from-bedside-to-home-site-monitoring
#7
Irene J Hoogeveen, Fabian Peeks, Foekje de Boer, Charlotte M A Lubout, Tom J de Koning, Sebastiaan Te Boekhorst, Robert-Jan Zandvoort, Rob Burghard, Francjan J van Spronsen, Terry G J Derks
BACKGROUND: The purpose of this project was to develop a telemedicine platform that supports home site monitoring and integrates biochemical, physiological, and dietary parameters for individual patients with hepatic glycogen storage disease (GSD). METHODS AND RESULTS: The GSD communication platform (GCP) was designed with input from software developers, GSD patients, researchers, and healthcare providers. In phase 1, prototyping and software design of the GCP has occurred...
March 29, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29594646/newborn-screening-for-pompe-disease-impact-on-families
#8
B Pruniski, E Lisi, N Ali
Pompe disease (PD) is an autosomal recessive lysosomal storage disorder causing progressive glycogen accumulation in muscles, with variability in age of onset and severity. For infantile-onset PD (IOPD), initiation of early treatment can be life-saving; however, current newborn screening (NBS) technology cannot distinguish IOPD from late-onset PD (LOPD) without clinical workup. Therefore, families of LOPD infants diagnosed by NBS may now spend years or even decades aware of their illness before symptoms appear, creating a pre-symptomatic awareness phase with which the medical community has little experience...
March 28, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29581464/whole-exome-sequencing-helps-the-diagnosis-and-treatment-in-children-with-neurodevelopmental-delay-accompanied-unexplained-dyspnea
#9
Wenjia Tong, Yajian Wang, Yun Lu, Tongsheng Ye, Conglei Song, Yuanyuan Xu, Min Li, Jie Ding, Yuanyuan Duan, Le Zhang, Weiyue Gu, Xiaoling Zhao, Xiu-An Yang, Danqun Jin
Neurodevelopmental delay accompanied unexplained dyspnea is a highly lethal disease in clinic. This study is to investigate the performance characteristics of trio whole exome sequencing (Trio-WES) in a pediatric setting by presenting our patient cohort and displaying the diagnostic yield. A total of 31 pediatric patients showing neurodevelopmental delay accompanied unexplained dyspnea were admitted to our hospital and referred for molecular genetic testing using Trio-WES. Eight genes namely MMACHC, G6PC, G6PT, ETFDH, OTC, NDUFAF5, SLC22A5, and MAGEL2 were suspected to be responsible for the onset of the clinical symptoms and 6 variants were novel...
March 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29576889/recent-development-and-gene-therapy-for-glycogen-storage-disease-type-ia
#10
Janice Y Chou, Goo-Young Kim, Jun-Ho Cho
Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC) that is expressed primarily in the liver, kidney, and intestine. G6Pase-α catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose and phosphate in the terminal step of gluconeogenesis and glycogenolysis, and is a key enzyme for endogenous glucose production. The active site of G6Pase-α is inside the endoplasmic reticulum (ER) lumen. For catalysis, the substrate G6P must be translocated from the cytoplasm into the ER lumen by a G6P transporter (G6PT)...
September 2017: Liver Research
https://www.readbyqxmd.com/read/29575534/perioperative-management-of-children-with-glycogen-storage-disease-type-ii-pompe-disease
#11
Linelot Bosman, Sanne E Hoeks, Antonia González Candel, Hannerieke J M van den Hout, Ans T van der Ploeg, Lonneke M Staals
BACKGROUND: Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase. Glycogen accumulation damages skeletal, cardiac, and smooth muscles, causing a progressive and debilitating muscle weakness and cardiomyopathy. As life expectancy has much improved since the introduction of enzyme replacement therapy an increasing number of patients are referred for surgical procedures. Due to the potential cardiopulmonary complications, these patients form a high-risk group for the anesthesiologist...
March 25, 2018: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29573830/gastric-mucormycosis-in-a-liver-and-kidney-transplant-recipient-case-report-and-concise-review-of-literature
#12
G Alfano, F Fontana, D Francesca, G Assirati, P Magistri, G Tarantino, R Ballarin, G Rossi, E Franceschini, M Codeluppi, G Guaraldi, C Mussini, F Di Benedetto, G Cappelli
Mucormycosis is an uncommonly encountered fungal infection in solid organ transplantation. The infection is severe and often results in a fatal outcome. The most common presentations are rhino-sino-orbital and pulmonary disease. We describe a rare case of gastric mucormycosis in a patient with a combined liver-kidney transplant affected by glycogen storage disease type Ia. A 42-year-old female patient presented with gastric pain and melena 26 days after transplantation. Evaluation with upper endoscopy showed two bleeding gastric ulcers...
April 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29573408/classic-infantile-pompe-patients-approaching-adulthood-a-cohort-study-on-consequences-for-the-brain
#13
Berendine J Ebbink, Esther Poelman, Femke K Aarsen, Iris Plug, Luc Régal, Carsten Muentjes, Nadine A M E van der Beek, Maarten H Lequin, Ans T van der Ploeg, Johanna M P van den Hout
AIM: To examine the long-term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy. METHOD: Using neuropsychological tests and brain magnetic resonance imaging (MRI), we prospectively assessed a cohort of 11 classic infantile Pompe patients aged up to 17 years. RESULTS: From approximately age 2 years onwards, brain MRI showed involvement of the periventricular white matter and centrum semiovale...
March 24, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29565761/pompe-disease-an-indian-series-diagnosed-on-muscle-biopsy-by-ultrastructural-characterization
#14
Aanchal Kakkar, Mehar C Sharma, Aruna Nambirajan, Sheffali Gulati, Rohit Bhatia, Vaishali Suri, Chitra Sarkar
Pompe disease (PD) is a lysosomal storage disorder characterized by glycogen accumulation in muscle, with infantile-onset (IOPD) and late-onset (LOPD) types. Nineteen cases of PD were diagnosed over a 14-year period on muscle biopsy by ultrastructural examination. Pools of glycogen (intralysosomal and cytoplasmic) and excessive phagocytosis were seen in myofibers on electron microscopy. Glycogen was noted in endothelial cells in IOPD. Although PD accounts for a small fraction of muscle diseases, timely accurate diagnosis is imperative as it is treatable...
March 22, 2018: Ultrastructural Pathology
https://www.readbyqxmd.com/read/29560763/pre-and-peripartal-management-of-a-woman-with-mcardle-disease-a-case-report
#15
Tina Stopp, Michael Feichtinger, Wolfgang Eppel, Thomas M Stulnig, Peter Husslein, Christian Göbl
McArdle disease or glycogen storage disease (GSD) type V is a rare autosomal recessive inherited disorder in skeletal muscle metabolism leading to exercise intolerance, muscle cramps and in some cases to rhabdomyolysis and acute renal failure due to elevated serum myoglobin levels. Albeit the uterine smooth muscle is not affected, pregnancy and delivery can be physically strenuous and may require specific anesthesiologic care. However, data on pregnancy progress and outcome and on special implications linked to anesthesia in women with McArdle's disease is scarce, thus posing a challenge to pre- and peripartal management...
March 21, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29545180/hepatic-glucose-6-phosphatase-%C3%AE-deficiency-leads-to-metabolic-reprogramming-in-glycogen-storage-disease-type-ia
#16
Jun-Ho Cho, Goo-Young Kim, Brian C Mansfield, Janice Y Chou
Glycogen storage disease type Ia (GSD-Ia) is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC), a key enzyme in endogenous glucose production. This autosomal recessive disorder is characterized by impaired glucose homeostasis and long-term complications of hepatocellular adenoma/carcinoma (HCA/HCC). We have shown that hepatic G6Pase-α deficiency-mediated steatosis leads to defective autophagy that is frequently associated with carcinogenesis. We now show that hepatic G6Pase-α deficiency also leads to enhancement of hepatic glycolysis and hexose monophosphate shunt (HMS) that can contribute to hepatocarcinogenesis...
March 12, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29523196/2-deoxy-2-18-fluoro-d-glucose-pet-ct-18fdg-pet-ct-may-not-be-a-viable-biomarker-in-pompe-disease
#17
U Plöckinger, V Prasad, A Ziagaki, N Tiling, A Poellinger
BACKGROUND: Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene. In adult patients, PD is characterized by slowly progressive limb-girdle and trunk myopathy and restrictive respiratory insufficiency. Enzyme replacement therapy (ERT) is available, improving or stabilizing muscle-function in some and slowing deterioration in other patients. Unfortunately, there is no biomarker available to indicate therapeutic efficacy and/or disease activity...
March 9, 2018: Human Genomics
https://www.readbyqxmd.com/read/29519355/spectrum-of-restrictive-and-infiltrative-cardiomyopathies-part-1-of-a-2-part-series
#18
REVIEW
Naveen L Pereira, Martha Grogan, G William Dec
Restrictive cardiomyopathies are the least common form of heart muscle disease. They are characterized as infiltrative and noninfiltrative, storage diseases, and endomyocardial disorders. Genetic diseases commonly present during childhood or adolescence. However, a growing percentage of elderly patients with heart failure with preserved ejection fraction are being recognized as having forms of restrictive cardiomyopathy, particularly cardiac amyloidosis. Noninvasive evaluation has replaced endomyocardial biopsy in the diagnostic evaluation of most suspected etiologies...
March 13, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29511104/metabolic-shift-from-glycogen-to-trehalose-promotes-lifespan-and-healthspan-in-caenorhabditis-elegans
#19
Yonghak Seo, Samuel Kingsley, Griffin Walker, Michelle A Mondoux, Heidi A Tissenbaum
As Western diets continue to include an ever-increasing amount of sugar, there has been a rise in obesity and type 2 diabetes. To avoid metabolic diseases, the body must maintain proper metabolism, even on a high-sugar diet. In both humans and Caenorhabditis elegans , excess sugar (glucose) is stored as glycogen. Here, we find that animals increased stored glycogen as they aged, whereas even young adult animals had increased stored glycogen on a high-sugar diet. Decreasing the amount of glycogen storage by modulating the C...
March 6, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29509141/-fanconi-bickel-syndrom-a-novel-genetic-disease-in-original-braunvieh
#20
S Joller, M Stettler, I Locher, M Dettwiler, F Seefried, M Meylan, C Drögemüller
This case report describes a new genetic disease of the Braunvieh breed in Switzerland. The bovine disorder also occurs in German Fleckvieh, and corresponds to human Fanconi-Bickel syndrome which is an inherited glycogen storage disease caused by mutations of the SLC2A2 gene encoding the glucose transporter GLUT2. This case report describes a single affected Original Braunvieh calf genotyped as homozygous for the FH2-associated SLC2A2 frame shift mutation. The clinical examination showed stunted growth, polyuria and polydipsia, as well as poor claw horn and coat quality...
March 2018: Schweizer Archiv Für Tierheilkunde
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