1,620 results match your criteria: "Glucose-6-Phosphatase Deficiency"
Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia.
Nat Commun
November 2024
Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.
Article Synopsis
- * The huR83C mouse model replicates the disease phenotype and has been used to test the effectiveness of BEAM-301, a treatment that utilizes lipid nanoparticles and adenine base editing to correct the harmful G6PC1-R83C variant.
- * BEAM-301 has shown the ability to correct about 60% of the variant in liver cells, restore blood sugar control, improve overall health, and increase survival rates in mice, indicating its potential as a therapeutic option for patients with this specific genetic mutation
Precision-cut liver slices as an ex vivo model to assess impaired hepatic glucose production.
Commun Biol
November 2024
Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Article Synopsis
Glycogen Storage Disease Type I and Bone: Clinical and Cellular Characterization.
Calcif Tissue Int
November 2024
Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Via Vetoio, Coppito 2, 67100, L'Aquila, Italy.
Article Synopsis
SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression.
Sci Rep
October 2024
Department of Preventive Dentistry, Osaka University Dental Hospital, Suita, Osaka, 565-0871, Japan.
Article Synopsis
Nutrition Management in Children Less than 5 Years of Age with Glycogen Storage Disease Type I: Survey Results.
Nutrients
September 2024
Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Children's Memorial Hermann Hospital, Houston, TX 77030, USA.
Article Synopsis
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia.
J Lipid Res
October 2024
Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy; CEINGE Biotecnologie Avanzate s.c.ar.l., Naples, Italy. Electronic address:
Article Synopsis
Outcomes of Pediatric Liver Transplantation in Glycogen Storage Disease Type 1b-A Single-Center Experience.
Pediatr Transplant
November 2024
Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK.
Article Synopsis
- Liver transplantation (LT) for children with glycogen storage disease type 1b can reduce infection-related hospital visits but does not improve neutropenia or the need for granulocyte colony-stimulating factor (G-CSF) post-transplant.
- In a study of eight children, most showed signs of graft rejection despite adequate immunosuppression, and while body mass index (BMI) significantly decreased, height remained unchanged after LT.
- The use of dapagliflozin helped stop G-CSF administration and led to lower gastrointestinal and infection-related issues, but did not enhance neutrophil counts.
Isolated short stature as the only presenting symptom of glycogen storage disease type 0a in a Chinese child: A case report.
Medicine (Baltimore)
August 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Article Synopsis
Potential use of other starch sources in the treatment of glycogen storage disease type Ia - an in vitro study.
Orphanet J Rare Dis
July 2024
Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Article Synopsis
- * Sweet manioc starch was tested and shows promise as an alternative treatment, with moisture and sugar content analyzed in various samples.
- * Future clinical trials are needed to evaluate the effectiveness of sweet manioc starch compared to uncooked cornstarch in treating GSD-Ia.
Screening and surveillance of hepatocellular carcinoma by serum des-gamma-carboxy prothrombin in patients with glycogen storage disease type Ia.
JIMD Rep
July 2024
Department of Metabolic Diseases, Beatrix Children's Hospital University Medical Center Groningen, University of Groningen Groningen The Netherlands.
Article Synopsis
Successful Anesthetic Management of an Adult Patient With Glycogen Storage Disease Type 1 During Liver Transplant: A Case Report.
Exp Clin Transplant
May 2024
>From the Department of Anesthesiology and Intensive Care Unit, Baskent University, Faculty of Medicine, Ankara, Turkey.
Article Synopsis
Case report: The success of empagliflozin therapy for glycogen storage disease type 1b.
Front Endocrinol (Lausanne)
June 2024
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Article Synopsis
- - Glycogen storage disease type 1b (GSD-1b) leads to neutropenia and dysfunction in neutrophils due to the buildup of a harmful metabolite.
- - A case series involving three pediatric patients treated with empagliflozin showed significant improvements in symptoms like infections, abdominal pain, and anemia, while also stabilizing neutrophil counts.
- - Over three years, empagliflozin not only provided clinical benefits, including better overall health and reduced inflammation, but also allowed the cessation of G-CSF treatment in all patients.
Gut Dysbiosis Drives Inflammatory Bowel Disease Through the CCL4L2-VSIR Axis in Glycogen Storage Disease.
Adv Sci (Weinh)
August 2024
Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.
Article Synopsis
- * This study identifies distinct digestive symptoms in GSD-Ib patients, including deep ulcers and strictures, and reveals that their gut microbiota and immune responses differ from typical IBD cases.
- * The research highlights a specific pathway (CCL4L2-VSIR axis) that could be targeted for therapy, aiming to improve gut health and manage IBD in GSD-Ib patients.
Previously undiagnosed genetic disease in adult patient with hepatic masses and reported history of congenital hyperinsulinism.
BMJ Case Rep
May 2024
Internal Medicine, Allegheny Health Network, Pittsburgh, Pennsylvania, USA
Article Synopsis
[Investigation on the treatment of empagliflozin in glycogen storage disease type Ⅰb].
Zhonghua Er Ke Za Zhi
June 2024
Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Article Synopsis
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Mol Genet Metab
June 2024
University Children's Hospital Salzburg, Salzburger Landeskliniken und Paracelsus Medical University, Salzburg, Austria; Amalia Children's Hospital, Radboudumc, Nijmegen, the Netherlands. Electronic address:
Article Synopsis
A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data.
BMC Med Genomics
May 2024
Department of Pathology, West China Hospital, Sichuan University, Chengdu, 610000, China.
Article Synopsis
Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial.
Sci Rep
April 2024
Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
Article Synopsis
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.
Orphanet J Rare Dis
April 2024
Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Article Synopsis
- Glycogen storage disease type Ib (GSD Ib) is a rare genetic condition that leads to severe health issues like low blood sugar and neutropenia due to mutations in the SLC37A4 gene, making traditional treatments ineffective for neutropenia.
- Recent findings on the condition allowed for the use of the SGLT2 inhibitor empagliflozin, which has shown promise in improving neutrophil function and overall health in GSD Ib patients since its introduction in 2020.
- A study of 35 pediatric GSD Ib patients revealed that empagliflozin treatment is effective and safe in managing the disease, although patients should be monitored for urinary infections and hypoglycemia as potential side effects.
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.
Clin Genet
September 2024
Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Article Synopsis
- - Glycogen storage diseases (GSDs) are inherited disorders affecting glycogen metabolism, primarily in the liver, muscles, and heart, caused by genetic mutations that lead to deficiencies in specific proteins.
- - A study of 39 patients in China utilized next-generation sequencing to diagnose various GSD subtypes, revealing 20 cases of GSD-Ia, 4 of GSD-VI, and 15 of GSD IX, with several novel mutations identified in key genes.
- - The research highlights the rarity of hearing impairment in GSD Ia patients and suggests the need for careful monitoring of severity in GSD VI and IX cases, contributing to a better understanding of genotype-phenotype relationships in GSDs.
Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin.
Blood Adv
June 2024
Department of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnologies, Jagiellonian University, Krakow, Poland.
Article Synopsis
- Neutropenia and neutrophil dysfunction in glycogen storage disease type 1b (GSD1b) result from the buildup of a specific compound, and the drug empagliflozin has shown potential to reverse these effects by lowering this compound's levels.
- A study involving 7 GSD1b patients and 11 healthy donors tested the effectiveness of empagliflozin against the standard treatment, granulocyte-colony stimulating factor (G-CSF), over 3 and 12 months.
- Results indicated that empagliflozin significantly improved neutrophil counts and their functionalities, leading to better immune responses and fewer severe infections, while G-CSF provided limited benefits, allowing for its reduction or
Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates.
Pediatr Res
July 2024
Neurogenetics Research Center, IRCCS Fondazione Mondino, Pavia, Italy.
Intestinal microbiota composition of children with glycogen storage Type I patients.
Eur J Clin Nutr
May 2024
Gazi University Faculty of Medicine, Department of Pediatric Nutrition and Metabolism, Ankara, Turkey.
Article Synopsis
DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia.
Mol Genet Metab
November 2023
Groupe de Recherches Metaboliques, de Duve Institute, UCLouvain, Brussels, Belgium. Electronic address:
Article Synopsis
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.
Mol Genet Metab
March 2024
University Children's Hospital Salzburg, Paracelsus Medical University and Salzburger Landeskliniken, Salzburg, Austria; Amalia Children's Hospital, Nijmegen, the Netherlands. Electronic address: