270 results match your criteria Glycogen Storage Disease Type Ib


Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre.

Orphanet J Rare Dis 2022 05 12;17(1):195. Epub 2022 May 12.

Inherited Metabolic Diseases, Evelina London Children's Hospital, London, SE1 7EH, UK.

Background: Glycogen storage disease type Ib (GSD Ib) is a severe disorder of carbohydrate metabolism due to bi-allelic variants in SLC37A4. It is associated with neutropaenia and neutrophil dysfunction, which has recently been attributed to the accumulation of 1,5-anhydroglucitol-6-phosphate (1,5AG6P) within neutrophils. Treatment with sodium-glucose co-transporter-2 (SGLT2) inhibitors, such as empagliflozin, is a novel therapy that reduces 1,5-anhydroglucitol (1,5AG) in plasma. Read More

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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

Genet Med 2022 May 2. Epub 2022 May 2.

Division of Metabolism and Nutrition, Department of Pediatrics, Ege University Children's Hospital, Izmir, Turkey.

Purpose: This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib).

Methods: This is an international retrospective questionnaire study on the safety and efficacy of empagliflozin use for management of neutropenia/neutrophil dysfunction in patients with GSD Ib, conducted among the respective health care providers from 24 countries across the globe.

Results: Clinical data from 112 individuals with GSD Ib were evaluated, representing a total of 94 treatment years. Read More

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Molecular mechanisms of aberrant neutrophil differentiation in glycogen storage disease type Ib.

Cell Mol Life Sci 2022 Apr 18;79(5):246. Epub 2022 Apr 18.

Department of Biotechnology and Bioinformatics, College of Science and Technology, Korea University, Sejong, 339-700, Republic of Korea.

Glycogen storage disease type Ib (GSD-Ib), characterized by impaired glucose homeostasis, neutropenia, and neutrophil dysfunction, is caused by a deficiency in glucose-6-phosphate transporter (G6PT). Neutropenia in GSD-Ib has been known to result from enhanced apoptosis of neutrophils. However, it has also been raised that neutrophil maturation arrest in the bone marrow would contribute to neutropenia. Read More

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Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia.

Mol Genet Metab Rep 2022 Jun 15;31:100848. Epub 2022 Feb 15.

Department of Pediatrics, Duke University Medical Center, United States of America.

Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa). We describe, to our knowledge, the first patient with GSDIa and very early-onset inflammatory bowel disease (VEO-IBD). Larger studies are needed to better understand this possible association, elucidate the mechanism of VEO-IBD in GSDIa, and inform management. Read More

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Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.

J Pediatr Endocrinol Metab 2022 Mar 6;35(3):373-385. Epub 2022 Jan 6.

Department of Paediatrics & Child Health, The Aga Khan University (AKU) Hospital, Karachi, Pakistan.

Objectives: Evaluation of clinical, biochemical and molecular analysis of Pakistani patients with hepatic GSDs.

Methods: Medical charts, biochemical, histopathological and molecular results of patients with hepatic GSD were reviewed.

Results: Out of 55 GSD patients, 41 (74. Read More

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Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism.

Int J Pediatr Otorhinolaryngol 2021 Dec 10;151:110970. Epub 2021 Nov 10.

Department of Pathology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20; 04-730, Warsaw, Poland.

Objective: Glycogen storage disease (GSD) type I is an inborn error of carbohydrates metabolism characterized by inability to convert glucose-6-phosphate to glucose. It presents with serious liver and metabolic complications, as well as in type Ib with severe infections due to neutropenia. So far, the sensorineural hearing impairment has not been reported in these patients. Read More

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December 2021

Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study.

Orphanet J Rare Dis 2021 10 11;16(1):423. Epub 2021 Oct 11.

Institute of Biomedical Sciences, Academia Sinica, 128 Academia Road, Section 2, Nankang, Taipei, 11529, Taiwan.

Background And Aims: Glycogen storage disease type I (GSD-I) is an autosomal recessive disorder of carbohydrate metabolism, resulting in limited production of glucose and excessive glycogen storage in the liver and kidneys. These patients are characterized by life-threatening hypoglycemia, metabolic derangements, hepatomegaly, chronic kidney disease, and failure to thrive. Liver transplantation (LT) has been performed for poor metabolic control and delayed growth. Read More

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October 2021

Glycogen storage disease type I patients with hyperlipidemia have no signs of early vascular dysfunction and premature atherosclerosis.

Nutr Metab Cardiovasc Dis 2021 11 13;31(12):3384-3392. Epub 2021 Aug 13.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, 79106 Freiburg, Germany. Electronic address:

Background And Aims: Glycogen storage disease type I (GSD I) is associated with hyperlipidemia, a known risk factor for premature atherosclerosis. Few studies have addressed endothelial dysfunction in patients with GSD I, and these studies yielded controversial results.

Methods And Results: We investigated vascular dysfunction in a cohort of 32 patients with GSD I (26 GSD Ia, 6 GSD Ib, mean age 20. Read More

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November 2021

Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases.

Nutrients 2021 Aug 27;13(9). Epub 2021 Aug 27.

Graduate Program in Medical Sciences Medicine, Department of Medical College, Universidade Federal do Rio Grande do Sul, Porto Alegre 90040-060, Brazil.

The association between bone mineral density (BMD) and hepatic glycogen storage diseases (GSDs) is still unclear. To evaluate the BMD of patients with GSD I, IIIa and IXα, a cross-sectional study was performed, including 23 patients (GSD Ia = 13, Ib = 5, IIIa = 2 and IXα = 3; median age = 11.9 years; IQ = 10. Read More

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A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia.

Front Pediatr 2021 17;9:671536. Epub 2021 Aug 17.

Department of Pediatrics, Zibo Central Hospital, Shandong First Medical University, Zibo, China.

Glycogen storage disease (GSD) Ib is a rare genetic metabolic disorder caused by gene mutation in the glucose 6-phosphate transport gene SLC37A4 (OMIM# 602671). This study aimed to explore the association between a novel lipoprotein lipase () mutation and severe hypertriglyceridemia in a GSD Ib infant with severe hypertriglyceridemia. A 5-month-old girl was admitted to our hospital because of repeated episodes of low-grade fever over the past month and because of neutropenia. Read More

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Impact of glycogen storage disease type I on adult daily life: a survey.

Orphanet J Rare Dis 2021 09 3;16(1):371. Epub 2021 Sep 3.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.

Background: Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate intake and the use of complex carbohydrates, nocturnal tube feeding or night-time uncooked cornstarch intake, regular blood glucose monitoring and the handling of emergency situations. With improved treatment, most patients nowadays survive into adulthood. Read More

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September 2021

Empagliflozin ameliorated neutropenia in a girl with glycogen storage disease Ib.

Pediatr Int 2021 Nov 11;63(11):1394-1396. Epub 2021 Aug 11.

Department of Pediatrics, Kitano Hospital, Tazuke Kofukai Medical Research Institute, Osaka, Japan.

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November 2021

Immunological features and complications in patients with glycogen storage disease 1b after living donor liver transplantation.

Pediatr Transplant 2021 12 2;25(8):e14104. Epub 2021 Aug 2.

Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.

Background: LT is an elective treatment choice for children diagnosed with GSD1b that can improve their quality of life and stabilize their glucose intolerance. However, careful attention should be paid to immunosuppression after LT due to the susceptibility to infection because of neutropenia and neutrophil dysfunction in GSD1b patients. This study revealed the immunological features and complications in the early post-LT period. Read More

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December 2021

Infliximab treatment of glycogenosis Ib with Crohn's-like enterocolitis: A case report.

World J Clin Cases 2021 Jul;9(19):5280-5286

Pathology Department, Capital Institute of Pediatrics, Beijing 100020, China.

Background: Glycogen storage disease type Ib (GSD-Ib) is a glycogen metabolism disorder that leads to the manifestations of inflammatory bowel disease (IBD), especially Crohn's disease (CD)-like colitis. Although biological agents are effective for treating CD, their application in the treatment of GSD-Ib with CD-like colitis has been rarely reported.

Case Summary: A 13-year-old Han male was diagnosed with GSD-Ib with CD. Read More

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Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report.

Ital J Pediatr 2021 Jul 2;47(1):149. Epub 2021 Jul 2.

Department of Translational Medical Sciences, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.

Background: Besides major clinical/biochemical features, neutropenia and inflammatory bowel disease (IBD) constitute common complications of Glycogen storage disease type Ib (GSD Ib). However, their management is still challenging. Although previous reports have shown benefit of empagliflozin administration on neutropenia, no follow-up data on bowel (macro/microscopic) morphology are available. Read More

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Neurological Characteristics of Pediatric Glycogen Storage Disease.

Front Endocrinol (Lausanne) 2021 21;12:685272. Epub 2021 May 21.

Faculdades Pequeno Príncipe, Curitiba, Brazil.

Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. Hypoglycemia is the most common primary manifestation of GSD, and disturbances in glucose metabolism can cause neurological damage. The aims of this study were to first investigate the metabolic, genetic, and neurological profiles of children with GSD, and to test the hypothesis whether GSD type I would have greater neurological impact than GSD type IX. Read More

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January 2022

The natural history of glycogen storage disease type Ib in England: A multisite survey.

JIMD Rep 2021 May 24;59(1):52-59. Epub 2021 Jan 24.

Inherited Metabolic Disorders Birmingham Children's Hospital Birmingham UK.

Glycogen storage disease type Ib (GSDIb) is characterized by hepatomegaly and fasting hypoglycaemia as well as neutropaenia and recurrent infections. We conducted a retrospective observational study on a cohort of patients with GSDIb across England. A total of 35 patients, with a median age of 9. Read More

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Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.

BMC Med Genomics 2021 03 17;14(1):81. Epub 2021 Mar 17.

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Background: To investigate the clinical and genetic characteristics of patients with glycogen storage disease type Ib (GSD Ib).

Case Presentation: This report retrospectively analyzed the clinical data of 3 patients with GSD Ib admitted into our hospital, and summarized their onset characteristics, clinical manifestations, related examinations and treatment as well as mutational spectrum. After gene sequencing, the diagnosis of GSD Ib was confirmed in all 3 patients. Read More

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ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I.

Rev Paul Pediatr 2021 5;39:e2020046. Epub 2021 Feb 5.

Universidade Estadual de Campinas, Campinas, SP, Brazil.

Objective: To perform anthropometric and dietary evaluation of patients with glycogenosis type Ia and Ib.

Methods: This cross-sectional study is composed of a sample of 11 patients with glycogenosis divided into two subgroups according to the classification of glycogenosis (type Ia=5 and type Ib=6), aged between 4 and 20 years. The analyzed anthropometric variables were weight, height, body mass index, and measures of lean and fat body mass, which were compared with reference values. Read More

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September 2021

[Advances on the management of renal lesion in glycogen storage disease type I].

Authors:
W C Wu J S Wang

Zhonghua Gan Zang Bing Za Zhi 2021 Jan;29(1):75-78

Department of Infectious Disease, Children's Hospital of Fudan University, Shanghai 201102, China.

Glycogen storage disease (GSD) is a group of congenital defects involved in the synthesis and decomposition of glycogen. As the most common type, GSD I is caused by mutations in glucose-6-phophate catalytic subunit (type Ia), or glucose-6-phosphate transporter (type Ib). Both defects can lead to hypoglycemia and accumulation of glycogen in the liver and kidney. Read More

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January 2021

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome.

Front Genet 2020 11;11:601566. Epub 2021 Jan 11.

Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Glycogen storage diseases (GSDs) are the heterogeneous group of disorders caused by mutations in at least 30 different genes. Different types of GSDs, especially liver GSDs, take overlapping symptoms and can be clinically indistinguishable. This survey evaluated the use of whole-exome sequencing (WES) for the genetic analysis of the liver GSD-suspected patients in three unrelated families. Read More

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January 2021

Periodontal Manifestation of Type Ib Glycogen Storage Disease: A Rare Case Report.

Clin Adv Periodontics 2020 09 28;10(3):150-154. Epub 2020 Jul 28.

Department of Periodontics, School of Dental Medicine, Case Western Reserve University, Cleveland, OH.

Introduction: Glycogen storage diseases (GSD) are genetic metabolic disorders of glycogen metabolism. There are >15 types based on the enzyme deficiency and the affected organ. Glycogen storage disease Type Ib is the only type associated with neutropenia and periodontitis. Read More

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September 2020

A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.

Mol Genet Genomic Med 2021 01 5;9(1):e1568. Epub 2020 Dec 5.

Department of Rheumatology, Xiangya Hospital, Central South University, Changsha, China.

Background: Glycogen storage disease (GSD) type Ib is an autosomal recessive disease caused by defects of glucose-6-phosphate transporter (G6PT), encoded by the SLC37A4 gene. To date, over 100 mutations have been revealed in the SLC37A4 gene. GSD-Ib patients manifest a metabolic phenotype of impaired blood glucose homeostasis and also carry the additional complications of neutropenia and myeloid dysfunction. Read More

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January 2021

When sugar isn't sweet: neutropenia in GSD-Ib.

Blood 2020 08;136(9):1015-1016

University of Connecticut Health Center.

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Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.

Orphanet J Rare Dis 2020 08 24;15(1):218. Epub 2020 Aug 24.

Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre- University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.

Background: Glycogen storage disease type Ib (GSD Ib) is a rare inborn error of glycogen metabolism due to mutations in SLC37A4. Besides a severe form of fasting intolerance, the disorder is usually associated with neutropenia and neutrophil dysfunction causing serious infections, inflammatory bowel disease, oral, urogenital and perianal lesions as well as impaired wound healing. Recently, SGLT2 inhibitors such as empagliflozin that reduce the plasma levels of 1,5-anhydroglucitol have been described as a new treatment option for the neutropenia and neutrophil dysfunction in patients with GSD Ib. Read More

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Tumorigenic Potential of Granulocyte Colony-Stimulating Factor Therapy-A Case Report and Review of Literature.

J Oral Maxillofac Surg 2020 12 10;78(12):2219-2225. Epub 2020 Jun 10.

Assistant Professor of Surgery and Residency Program Director, Department of Oral and Maxillofacial Surgery, Parkland/UT Southwestern, Dallas, TX.

An association between granulocyte colony-stimulating factor therapy (G-CSFT) in patients with glycogen storage disease type Ib (GSDIb) and the development of giant cell lesions of the maxillofacial complex has emerged. We have reported, to the best of our knowledge, the fourth case of giant cell granuloma (GCG) in a patient with GSDIb undergoing G-CSFT. GSDIb can present with hypoglycemia, hypertriglyceridemia, and neutropenia. Read More

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December 2020

Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience.

Diagnostics (Basel) 2020 May 13;10(5). Epub 2020 May 13.

Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, 04-730 Warsaw, Poland.

Background: The published data on the long-term outcomes of glycogen storage disease (GSD) patients is sparse in the literature. The aim of this study was to analyze the long-term (over 20 years) follow-up of patients with hepatic types of GSD-I, III, VI, and IX-from childhood to adulthood, managed by one referral center.

Patients And Methods: Thirty adult patients with hepatic GSD were included in the study. Read More

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Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort.

Mol Genet Metab Rep 2020 Jun 9;23:100581. Epub 2020 Apr 9.

Reference Center for Inherited Metabolic Diseases, Necker Hospital, APHP, Filière G2 M, MetabERN, Paris, France.

Glycogenosis type Ib (GSD1B) causes not only hypoglycemia but also infections and "Crohn's disease like" inflammatory bowel disease (IBD) that can significantly impair patient's quality of life. We retrospectively evaluated infectious and digestive complications in 9 French patients (3 girls, 6 boys) diagnosed at 0.8 years on average, with a mean follow-up of 19. Read More

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Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.

Blood 2020 08;136(9):1033-1043

Groupe de Recherches Metaboliques, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.

Neutropenia and neutrophil dysfunction cause serious infections and inflammatory bowel disease in glycogen storage disease type Ib (GSD-Ib). Our discovery that accumulating 1,5-anhydroglucitol-6-phosphate (1,5AG6P) caused neutropenia in a glucose-6-phosphatase 3 (G6PC3)-deficient mouse model and in 2 rare diseases (GSD-Ib and G6PC3 deficiency) led us to repurpose the widely used antidiabetic drug empagliflozin, an inhibitor of the renal glucose cotransporter sodium glucose cotransporter 2 (SGLT2). Off-label use of empagliflozin in 4 GSD-Ib patients with incomplete response to granulocyte colony-stimulating factor (GCSF) treatment decreased serum 1,5AG and neutrophil 1,5AG6P levels within 1 month. Read More

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Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 Patients.

Metabolites 2020 Mar 30;10(4). Epub 2020 Mar 30.

Department of Health Sciences, Università degli Studi di Milano, Milan 20142, Italy.

A life-long dietary intervention can affect the substrates' availability for gut fermentation in metabolic diseases such as the glycogen-storage diseases (GSD). Besides drug consumption, the main treatment of types GSD-Ia and Ib to prevent metabolic complications is a specific diet with definite nutrient intakes. In order to evaluate how deeply this dietary treatment affects gut bacteria, we compared the gut microbiota of nine GSD-I subjects and 12 healthy controls (HC) through 16S rRNA gene sequencing; we assessed their dietary intake and nutrients, their microbial short chain fatty acids (SCFAs) via gas chromatography and their hematic values. Read More

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