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Glycogen storage diseases

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https://www.readbyqxmd.com/read/29452156/establishment-of-a-prkag2-cardiac-syndrome-disease-model-and-mechanism-study-using-human-induced-pluripotent-stem-cells
#1
Yongkun Zhan, Xiaolei Sun, Bin Li, Huanhuan Cai, Chen Xu, Qianqian Liang, Chao Lu, Ruizhe Qian, Sifeng Chen, Lianhua Yin, Wei Sheng, Guoying Huang, Aijun Sun, Junbo Ge, Ning Sun
PRKAG2 cardiac syndrome is a distinct form of human cardiomyopathy characterized by cardiac hypertrophy, ventricular pre-excitation and progressive cardiac conduction disorder. However, it remains unclear how mutations in the PRKAG2 gene give rise to such a complicated disease. To investigate the underlying molecular mechanisms, we generated disease-specific hiPSC-derived cardiomyocytes from two brothers both carrying a heterozygous missense mutation c.905G>A (R302Q) in the PRKAG2 gene and further corrected the R302Q mutation with CRISPR-Cas9 mediated genome editing...
February 13, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29451150/identification-of-seven-novel-mutations-in-the-acid-alpha-glucosidase-gene-in-five-chinese-patients-with-late-onset-pompe-disease
#2
Hua-Xu Liu, Chuan-Qiang Pu, Qiang Shi, Yu-Tong Zhang, Rui Ban
Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with late-onset Pompe disease (LOPD) who carried novel GAA gene mutations. Methods: Clinical and pathological data of patients diagnosed with glycogen storage disease at our institution from April 1986 to August 2017 were collected, and next-generation sequencing of frozen muscle specimens was conducted...
February 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29441457/effect-of-vsl-3-probiotic-in-a-patient-with-glycogen-storage-disease-type-ia-and-irritable-bowel-disease-like-disease
#3
Miguel Carnero-Gregorio, Alberto Molares-Vila, Alberte Corbalán-Rivas, Carlos Villaverde-Taboada, Carmen Rodríguez-Cerdeira
Gut Inflammatory bowel disease (IBD) is a group of chronic gastrointestinal disorders characterised by relapsing and remitting inflammation of the gastrointestinal tract. The two most common types of IBDs are ulcerative colitis and Crohn's disease. Patients with glycogen storage disease (GSD) type Ia present with gastrointestinal symptoms such as recurrent abdominal pain, bloating and changes in stool form or frequency, which is clinically difficult to distinguish from IBD. We report the case of a 36-year-old man with GSD type Ia and IBD-like disease...
February 13, 2018: Probiotics and Antimicrobial Proteins
https://www.readbyqxmd.com/read/29435782/insulin-resistance-in-glycogen-storage-disease-type-ia-linking-carbohydrates-and-mitochondria
#4
Alessandro Rossi, Margherita Ruoppolo, Pietro Formisano, Guglielmo Villani, Lucia Albano, Giovanna Gallo, Daniela Crisci, Augusta Moccia, Giancarlo Parenti, Pietro Strisciuglio, Daniela Melis
BACKGROUND: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). GSDIa patients are at higher risk of developing insulin-resistance (IR). Mitochondrial dysfunction has been implicated in the development of IR. Mitochondrial dysfunction can demonstrate abnormalities in plama acylcarnitines (ACs) and urine organic acids (UOA). The aim of the study was to investigate the presence of mitochondrial impairment in GSDI patients and its possible connection with IR...
February 12, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29428299/g6pc-mrna-therapy-positively-regulates-fasting-blood-glucose-and-decreases-liver-abnormalities-in-a-mouse-model-of-glycogen-storage-disease-1a
#5
Daniel S Roseman, Tayeba Khan, Fabienne Rajas, Lucy S Jun, Kirtika H Asrani, Cleo Isaacs, Jeremiah D Farelli, Romesh R Subramanian
Glycogen storage disease type Ia (GSD1a) is an inherited metabolic disorder caused by the deficiency of glucose-6-phosphatase (G6Pase). GSD1a is associated with life-threatening hypoglycemia and long-term liver and renal complications. We examined the efficacy of mRNA-encoding human G6Pase in a liver-specific G6Pase -/- mouse model (L-G6PC -/- ) that exhibits the same hepatic biomarkers associated with GSD1a patients, such as fasting hypoglycemia, and elevated levels of hepatic glucose-6-phosphate (G6P), glycogen, and triglycerides...
January 31, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29408683/aberrant-apolipoprotein-c-iii-glycosylation-in-glycogen-storage-disease-type-iii-and-ix
#6
Nina Ondruskova, Tomas Honzik, Hana Kolarova, Zuzana Pakanova, Jan Mucha, Jiri Zeman, Hana Hansikova
INTRODUCTION: Apolipoprotein C-III (ApoC-III) is a mostly liver-derived serum O-glycoprotein, which is used, along with an N-glycoprotein transferrin (TF), as a marker in the biochemical screening for congenital disorders of glycosylation (CDG). However, it is increasingly evident that secondary glycosylation abnormalities might occur in other, non-CDG metabolic diseases. MATERIAL AND METHODS: Here we examined the glycosylation status of serum TF and Apo-CIII by isoelectric focusing, SDS-PAGE and MALDI TOF mass spectrometry in our group of 24 patients with various types of glycogen storage disorders (GSD; types 0, Ia, nonIa, III and IX)...
February 1, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29396266/rescue-of-gsdiii-phenotype-with-gene-transfer-requires-liver-and-muscle-targeted-gde-expression
#7
Patrice Vidal, Serena Pagliarani, Pasqualina Colella, Helena Costa Verdera, Louisa Jauze, Monika Gjorgjieva, Francesco Puzzo, Solenne Marmier, Fanny Collaud, Marcelo Simon Sola, Severine Charles, Sabrina Lucchiari, Laetitia van Wittenberghe, Alban Vignaud, Bernard Gjata, Isabelle Richard, Pascal Laforet, Edoardo Malfatti, Gilles Mithieux, Fabienne Rajas, Giacomo Pietro Comi, Giuseppe Ronzitti, Federico Mingozzi
Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by a deficiency of glycogen-debranching enzyme (GDE), which results in profound liver metabolism impairment and muscle weakness. To date, no cure is available for GSDIII and current treatments are mostly based on diet. Here we describe the development of a mouse model of GSDIII, which faithfully recapitulates the main features of the human condition. We used this model to develop and test novel therapies based on adeno-associated virus (AAV) vector-mediated gene transfer...
December 28, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29390460/infantile-onset-pompe-disease-with-neonatal-debut-a-case-report-and-literature-review
#8
Miriam Martínez, Mar García Romero, Luis García Guereta, Marta Cabrera, Rita M Regojo, Luis Albajara, Maria L Couce, Miguel Saenz de Pipaon
RATIONALE: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. PATIENT CONCERNS: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29379554/variable-clinical-presentation-of-glycogen-storage-disease-type-iv-from-severe-hepatosplenomegaly-to-cardiac-insufficiency-some-discrepancies-in-genetic-and-biochemical-abnormalities
#9
Edyta Szymańska, Sylwia Szymańska, Grażyna Truszkowska, Elżbieta Ciara, Maciej Pronicki, Yoon S Shin, Teodor Podskarbi, Alina Kępka, Mateusz Śpiewak, Rafał Płoski, Zofia T Bilińska, Dariusz Rokicki
No abstract text is available yet for this article.
January 2018: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29374762/late-presentation-of-glycogen-storage-disease-types-ia-and-iii-in-children-with-short-stature-and-hepatomegaly
#10
David Quackenbush, Justin Devito, Luigi Garibaldi, Melissa Buryk
BACKGROUND: Glycogen storage diseases (GSDs) are a collection of disorders related to glycogen synthesis or degradation that classically present in infancy with hypoglycemia, failure to thrive and hepatomegaly; however, their phenotype can vary significantly. CASE PRESENTATION: We present the cases of two children, 5 years old and 3.5 years old, who were referred to endocrinology for short stature. They were ultimately found to have hepatomegaly, fasting hypoglycemia, mild elevation of transaminases and ketosis...
January 29, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29371640/clinical-utility-gene-card-for-mcardle-disease
#11
Rhonda L Taylor, Mark Davis, Emma Turner, Astrid Brull, Tomás Pinos, Macarena Cabrera, Kristen J Nowak
Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). OMIM# of the disease #232600. Name of the analysed genes or DNA/chromosome segments Muscle glycogen phosphoryalse (PYGM). OMIM# of the gene(s) #608455.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in the PYGM gene(s) in⊠ diagnostic,⊠ predictive and⊠ prenatal settings and for⊠ risk assessment in relatives...
January 25, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29365902/characteristics-of-lipid-profile-in-the-different-types-of-glycogen-storage-disease
#12
Natalia Polenova, Antonina Starodubova, Tatyana Strokova, Svetlana Kosyura, Anastasia Krasilova, Madlena Bagaeva
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29360628/phkg2-mutation-spectrum-in-glycogen-storage-disease-type-ixc-a-case-report-and-review-of-the-literature
#13
Chunyun Li, Lihua Huang, Lang Tian, Jia Chen, Shentang Li, Zuocheng Yang
BACKGROUND: PHKG2 gene mutation can lead to liver phosphorylase kinase (PhK) deficiency, which is related to glycogen storage disease type IX (GSD IX). GSD IXc due to PHKG2 mutation is the second most common GSD IX. METHODS: We identified a novel mutation (c.553C>T, p.Arg185X) in PHKG2 in a Chinese family and verified it by next-generation and Sanger sequencing. The mutation spectrum of the PHKG2 gene was summarized based on 25 GSD IXc patients with PHKG2 mutations...
January 23, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29326002/prevalence-of-adult-pompe-disease-in-patients-with-proximal-myopathic-syndrome-and-undiagnosed-muscle-biopsy
#14
Amir Golsari, Arzoo Nasimzadah, Götz Thomalla, Sarah Keller, Christian Gerloff, Tim Magnus
We examined patients with limb-girdle muscle weakness and/or hyper-CKaemia and undiagnosed muscle biopsy for late onset Pompe disease (LOPD). Patients with an inconclusive limb-girdle muscle weakness who presented at our neuromuscular centre between 2005 and 2015 with undiagnosed muscle biopsies were examined by dry blood spot testing (DBS) including determination of the enzyme activity of acid alpha-glucosidase (GAA). In the case of depressed enzyme activity, additional gene testing of the GAA gene was carried out...
December 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29325298/-a-case-of-glycogen-storage-disease-type-ii-and-related-analysis
#15
J M Han, L Y Zhang, L Sun, Y Lu, M H Li
No abstract text is available yet for this article.
December 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29318410/flux-analysis-of-inborn-errors-of-metabolism
#16
D-J Reijngoud
Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites through the different metabolic pathways in this new steady state of the reprogrammed metabolism. Stable isotope technology is best suited to study this. In this review the progress made in characterizing the altered metabolism will be presented...
January 9, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29302509/a-novel-homozygous-lipa-mutation-in-a-korean-child-with-lysosomal-acid-lipase-deficiency
#17
Kwang Yeon Kim, Ju Whi Kim, Kyung Jae Lee, Eunhyang Park, Gyeong Hoon Kang, Young Hun Choi, Woo Sun Kim, Jung Min Ko, Jin Soo Moon, Jae Sung Ko
Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts...
December 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29240773/polypyridylruthenium-ii-complexes-exert-anti-schistosome-activity-and-inhibit-parasite-acetylcholinesterases
#18
Madhu K Sundaraneedi, Bemnet Tedla, Ramon M Eichenberger, Luke Becker, Darren Pickering, Michael J Smout, Siji Rajan, Phurpa Wangchuk, F Richard Keene, Alex Loukas, J Grant Collins, Mark S Pearson
BACKGROUND: Schistosomiasis affects over 200 million people and there are concerns whether the current chemotherapeutic control strategy (periodic mass drug administration with praziquantel (PZQ)-the only licenced anti-schistosome compound) is sustainable, necessitating the development of new drugs. METHODOLOGY/PRINCIPAL FINDINGS: We investigated the anti-schistosome efficacy of polypyridylruthenium(II) complexes and showed they were active against all intra-mammalian stages of S...
December 14, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29223626/sleep-and-quality-of-life-of-patients-with-glycogen-storage-disease-on-standard-and-modified-uncooked-cornstarch
#19
Isabelle Rousseau-Nepton, Céline Huot, Diane Laforte, Elise Mok, Daphna Fenyves, Evelyn Constantin, John Mitchell
BACKGROUND: Glycemic control in hepatic glycogen storage diseases (GSDs) relies on specific nutritional recommendations, including strict avoidance of a fasting period. Uncooked cornstarch (UCCS) is an important therapeutic component. A new modified UCCS, Glycosade™, was created with the objective of prolonging euglycemia. We aimed to determine the length of euglycemia on Glycosade™ using a continuous glucose monitor (CGM) and to evaluate whether longer euglycemia and thus less nighttime interruptions would improve sleep and quality of life (QoL) after the introduction of the modified cornstarch...
September 11, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29218530/tracking-glut2-translocation-by-live-cell-imaging
#20
Sabina Tsytkin-Kirschenzweig, Merav Cohen, Yaakov Nahmias
The facilitative glucose transporter (GLUT) family plays a key role in metabolic homeostasis, controlling the absorption rates and rapid response to changing carbohydrate levels. The facilitative GLUT2 transporter is uniquely expressed in metabolic epithelial cells of the intestine, pancreas, liver, and kidney. GLUT2 dysfunction is associated with several pathologies, including Fanconi-Bickel syndrome, a glycogen storage disease, characterized by growth retardation and renal dysfunction. Interestingly, GLUT2 activity is modulated by its cellular localization...
2018: Methods in Molecular Biology
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