321 results match your criteria: "Glycogen Storage Disease Type Ib"
Commun Biol
November 2024
Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Sci Rep
October 2024
Department of Preventive Dentistry, Osaka University Dental Hospital, Suita, Osaka, 565-0871, Japan.
Pediatr Transplant
November 2024
Liver Unit (Including Small Bowel Transplantation), Birmingham Children's Hospital, Birmingham, UK.
Front Endocrinol (Lausanne)
June 2024
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Adv Sci (Weinh)
August 2024
Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.
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:
Paediatr Drugs
May 2024
Clinical Pharmacology and Therapeutics Group, University College London, London, UK.
Sci Rep
April 2024
Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
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.
Blood Adv
June 2024
Department of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnologies, Jagiellonian University, Krakow, Poland.
Mol Genet Metab
November 2023
Groupe de Recherches Metaboliques, de Duve Institute, UCLouvain, Brussels, Belgium. Electronic address:
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:
J Inherit Metab Dis
March 2024
University Children's Hospital, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), Salzburg, Austria.
Genes (Basel)
December 2023
Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, SP, Brazil.
This study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects via comparing the proposed diagnostic hypotheses with the molecular results. Twelve physicians with experience in hepatic GSDs reviewed 45 real cases comprising a standardized summary of clinical and laboratory data. There was no relation between the hit rate and the time since graduation, the time of experience in GSD, and the number of patients treated during their careers.
View Article and Find Full Text PDFMol Metab
January 2024
Laboratory of Pediatrics, University of Groningen, University Medical Center Groningen, The Netherlands; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, The Netherlands. Electronic address:
Objective: Carbohydrate Response Element Binding Protein (ChREBP) is a glucose 6-phosphate (G6P)-sensitive transcription factor that acts as a metabolic switch to maintain intracellular glucose and phosphate homeostasis. Hepatic ChREBP is well-known for its regulatory role in glycolysis, the pentose phosphate pathway, and de novo lipogenesis. The physiological role of ChREBP in hepatic glycogen metabolism and blood glucose regulation has not been assessed in detail, and ChREBP's contribution to carbohydrate flux adaptations in hepatic Glycogen Storage Disease type 1 (GSD I) requires further investigation.
View Article and Find Full Text PDFJ Chromatogr B Analyt Technol Biomed Life Sci
September 2023
Clinical Pharmacology Research Center, Peking Union Medical College Hospital, State Key Laboratory of Complex Severe and Rare Diseases, NMPA Key Laboratory for Clinical Research and Evaluation of Drug, Beijing Key Laboratory of Clinical PK & PD Investigation for Innovative Drugs, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China. Electronic address:
J Pediatr Endocrinol Metab
November 2023
Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Çankaya, Ankara, Türkiye.
Objectives: Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, different from GSD type 1a. Treatment with granulocyte-colony stimulating factor (G-CSF) is often required in the management of neutropenia and inflammatory bowel disease. Recently, an alternative treatment option to G-CSF has been preferred, like empagliflozin.
View Article and Find Full Text PDFTherap Adv Gastroenterol
September 2023
Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Via G. B. Pergolesi, 33, 20900 Monza (MB), Italy.
Glycogen storage disease type Ib (GSD Ib) is a rare hereditary glycogen disorder that results in inadequate maintenance of glucose homeostasis, accumulation of glycogen in different organs, loss and dysfunction of neutrophils. Crohn's-like disease is observed in up to 24-77% of GDS Ib cases. Recently, empagliflozin has been recommended as a treatment for neutrophil dysfunction in GDS Ib patients with or without Crohn's-like disease.
View Article and Find Full Text PDFFASEB J
November 2023
Department of Biotechnology and Bioinformatics, College of Science and Technology, Korea University, Sejong, Republic of Korea.
Glycogen storage disease type Ib (GSD-Ib) is an autosomal recessive disorder caused by a deficiency in the glucose-6-phosphate (G6P) transporter (G6PT) that is responsible for transporting G6P into the endoplasmic reticulum. GSD-Ib is characterized by disturbances in glucose homeostasis, neutropenia, and neutrophil dysfunction. Although some studies have explored neutrophils abnormalities in GSD-Ib, investigations regarding monocytes/macrophages remain limited so far.
View Article and Find Full Text PDFAnal Bioanal Chem
November 2023
Clinical Pharmacology Research Center, Peking Union Medical College Hospital, State Key Laboratory of Complex Severe and Rare Diseases, NMPA Key Laboratory for Clinical Research and Evaluation of Drug, Beijing Key Laboratory of Clinical PK & PD Investigation for Innovative Drugs, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
Glucose tetrasaccharide (Glc) and maltotetraose (M) are important biomarkers for Pompe disease and other glycogen storage diseases (GSDs). With the development of new treatments for GSDs, more specific and sensitive bioanalytical methods are needed to determine biomarkers. In recent years, differential mobility spectrometry (DMS) has become an effective analytical technique with high selectivity and specificity.
View Article and Find Full Text PDFNat Rev Dis Primers
September 2023
Copenhagen Neuromuscular Center, Copenhagen University Hospital, Copenhagen, Denmark.
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future research directions. Some GSDs have available guidelines for diagnosis and management.
View Article and Find Full Text PDFNed Tijdschr Tandheelkd
September 2023
A young woman, known to have glycogen storage disease type 1B (GSD1B) presents with severe periodontitis. GDS1B causes decreased hepatic and renal glucose production and in many cases neutropenia and neutrophil dysfunction leading to recurrent infections. It was decided to treat the patient by extraction of the most affected teeth and retention of the remaining teeth through periodontal treatment, both with antibiotic prophylaxis.
View Article and Find Full Text PDFCell Mol Life Sci
August 2023
Metabolic Research Group, de Duve Institute and UCLouvain, de Duve Institute, 75, Av. Hippocrate, 1200, Brussels, Belgium.
Neutropenia and neutrophil dysfunction in glycogen storage disease type 1b (GSD1b) and severe congenital neutropenia type 4 (SCN4), associated with deficiencies of the glucose-6-phosphate transporter (G6PT/SLC37A4) and the phosphatase G6PC3, respectively, are the result of the accumulation of 1,5-anhydroglucitol-6-phosphate in neutrophils. This is an inhibitor of hexokinase made from 1,5-anhydroglucitol (1,5-AG), an abundant polyol in blood. 1,5-AG is presumed to be reabsorbed in the kidney by a sodium-dependent-transporter of uncertain identity, possibly SGLT4/SLC5A9 or SGLT5/SLC5A10.
View Article and Find Full Text PDFZhonghua Er Ke Za Zhi
June 2023
Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
To analyze the short-time efficacy of empagliflozin in the treatment of glycogen storage disease type Ⅰb (GSD Ⅰb). In this prospective open-label single-arm study, the data of 4 patients were collected from the pediatric department in Peking Union Medical College Hospital from December 2020 to December 2022. All of them were diagnosed by gene sequencing and had neutropenia.
View Article and Find Full Text PDF