254 results match your criteria Glycogen Storage Disease Type Ib


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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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 Mar 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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[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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Persistent hypoglycemia: Glycogen storage disease type Ib.

JAAPA 2020 Apr;33(4):1-3

Michael J. Rabener is program director of the US Air Force's Emergency Medicine PA Doctor of Science Residency at San Antonio (Tex.) Military Medical Center. Christopher M. Howell is an associate professor in the PA program at Kettering (Ohio) College. The authors have disclosed no potential conflicts of interest, financial or otherwise.

Glycogen storage disease is a rare congenital disorder that can lead to hypoglycemic events. This article focuses on a patient in acute distress secondary to hypoglycemia that failed to respond to initial interventions. Because symptoms can be similar to severe hyperglycemia, a thorough history and physical examination are key to prompt diagnosis and appropriate management. Read More

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Glucose-6-phosphate transporter mediates macrophage proliferation and functions by regulating glycolysis and mitochondrial respiration.

Biochem Biophys Res Commun 2020 03 21;524(1):89-95. Epub 2020 Jan 21.

Department of Biotechnology and Bioinformatics, Korea University, Sejong, 30019, Republic of Korea. Electronic address:

Glycogen storage disease type Ib (GSD-Ib), caused by a deficiency in glucose-6-phosphate transporter (G6PT), is characterized by disrupted glucose homeostasis, inflammatory bowel disease, neutropenia, and neutrophil dysfunction. The purpose of this study was to investigate the role of G6PT on macrophage functions and metabolism. Peritoneal macrophages of G6pt mice were lower in number and their effector functions including migration, superoxide production, and phagocytosis were impaired. Read More

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Glycogen storage disease type Ib: role of glucose-6-phosphate transporter in cell metabolism and function.

FEBS Lett 2020 01 22;594(1):3-18. Epub 2019 Nov 22.

Department of Biotechnology and Bioinformatics, College of Science and Technology, Korea University, Sejong, Korea.

Cellular metabolism generally refers to biochemical processes that produce or consume energy within the cell. Recent studies have established that aberrant metabolic states caused by internal or external stresses and genetic mutations are intertwined with several human pathologies. Gaining insight into these metabolic alterations is, therefore, essential for understanding the pathophysiology of various diseases. Read More

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January 2020

Inborn errors of metabolite repair.

J Inherit Metab Dis 2020 01 29;43(1):14-24. Epub 2019 Dec 29.

de Duve Institute, Université Catholique de Louvain (UCLouvain), Brussels, Belgium.

It is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless and/or toxic side-products. Recent work indicates that this statement is not entirely correct. In reality, enzymes are not strictly specific, they often display weak side activities on intracellular metabolites (substrate promiscuity) that resemble their physiological substrate or slowly catalyse abnormal reactions on their physiological substrate (catalytic promiscuity). Read More

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January 2020

Mutation analysis of in a patient with glycogen storage disease-type Ib.

J Int Med Res 2019 Dec 16;47(12):5996-6003. Epub 2019 Oct 16.

Department of Pediatrics, Beijing Jishuitan Hospital, Beijing, China.

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December 2019

Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.

Eur J Med Genet 2020 Mar 16;63(3):103767. Epub 2019 Sep 16.

Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.

Background: Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter. Neutropenia represents major feature of GSD-Ib along with metabolic disturbances. Previous research in GSD-Ib patients did not reveal significant genotype-phenotype correlation. Read More

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Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Mol Genet Genomic Med 2019 11 11;7(11):e877. Epub 2019 Sep 11.

Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Background: Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well-recognized diseases that can occur without the full spectrum, and with overlapping in symptoms.

Methods: We analyzed a cohort of 125 patients with suspected hepatic GSD through a next-generation sequencing (NGS) gene panel in Ion Torrent platform. Read More

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November 2019

Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib.

BMJ Case Rep 2019 Jul 18;12(7). Epub 2019 Jul 18.

Department of Paediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

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PRE AND POST-OPERATIVE OTORHINOLARYNGOLOGY SURGERY CARE IN PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE 1.

Rev Paul Pediatr 2019 4;37(4):516-519. Epub 2019 Jul 4.

Universidade Estadual de Campinas, São Paulo, SP, Brazil.

Objective: To discuss aspects of pre and post-operative otorhinolaryngology surgery in patients with glycogen storage disease type 1b.

Case Description: Description of three clinical cases with probable glycogen storage disease type 1b who underwent otorhinolaryngology surgery, showing the importance of multidisciplinary interaction to avoid episodes of hypoglycemia.

Comments: Patients with glycogen storage disease type 1b present recurrent infections, including the otorhinolaryngology affections. Read More

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Molecular diagnosis of glycogen storage disease type I: a review.

EXCLI J 2019 30;18:30-46. Epub 2019 Jan 30.

Shiraz Transplant Research Center (STRC), Shiraz, Iran.

Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease with variable clinical intensity. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal transport proteins for glucose 6-phosphate (GSD Ib). We searched the most recent English literature (1997-2017) regarding any article with the key word of "glycogen storage disease type I" in PubMed, Science Direct, Scopus, EMBASE, and Google Scholar. Read More

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January 2019

CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.

Gene 2019 Jun 3;703:17-25. Epub 2019 Apr 3.

Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, 11010 Belgrade, Serbia. Electronic address:

Glycogen storage disease type Ib (GSD Ib) is an autosomal recessive disorder, caused by a deficiency of ubiquitously expressed SLC37A4 protein. Deficiency of SLC37A4 leads to abnormal storage of glycogen in the liver and kidneys, resulting in long-term complications of renal disease and hepatocellular adenomas, whose mechanisms are poorly understood. Molecular markers of the adaptive responses to the metabolic stress caused by a deficiency of SLC37A4, such as markers related to the endoplasmic reticulum (ER) stress and unfolded protein response (UPR), have not been extensively studied. Read More

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Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.

Curr Opin Hematol 2019 01;26(1):16-21

Department of Pediatrics, Glycogen Storage Disease Program, Connecticut Children's Medical Center, Hartford, Connecticut, USA.

Purpose Of Review: Glycogen storage disease Ib (GSD Ib) is characterized by hepatomegaly, hypoglycemia, neutropenia, enterocolitis and recurrent bacterial infections. It is attributable to mutations in G6PT1, the gene for the glucose-6-phosphate transporter responsible for transport of glucose into the endoplasmic reticulum. Neutropenia in GSD Ib is now frequently treated with granulocyte colony-stimulating factor (G-CSF). Read More

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January 2019

Glycogen Storage Disease Ib and Severe Periodontal Destruction: A Case Report.

Dent J (Basel) 2018 Oct 3;6(4). Epub 2018 Oct 3.

Department of Periodontology, Stony Brook University School of Dental Medicine, South Drive, Stony Brook, NY 11794, USA.

: Glycogen storage diseases (GSDs) are genetic disorders that result from defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. It also manifests with impaired neutrophil chemotaxis and neutropenic episodes which results in severe destruction of the supporting dental tissues, namely the periodontium. Although GSD Type Ib cannot be cured, associated symptoms and debilitating oral manifestations of the disease can be managed through collaborative medical and dental care where early detection and intervention is of key importance. Read More

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October 2018

Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases.

JIMD Rep 2019 22;45:21-27. Epub 2018 Sep 22.

Post-graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Hepatic glycogen storage diseases (GSDs) are inborn errors of metabolism whose dietary treatment involves uncooked cornstarch administration and restriction of simple carbohydrate intake. The prevalence of feeding difficulties (FDs) and orofacial myofunctional disorders (OMDs) in these patients is unknown.

Objective: To ascertain the prevalence of FDs and OMDs in GSD. Read More

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September 2018

Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control.

Mol Genet Metab 2018 09 20;125(1-2):73-78. Epub 2018 Jul 20.

Division of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland; Radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland. Electronic address:

Background: 1-Deoxysphingolipids (1-deoxySLs) are atypical sphingolipids. They are formed during sphingolipid de novo synthesis by the enzyme serine palmitoyltransferase, due to the alternate use of alanine over its canonical substrate serine. Pathologically elevated 1-deoxySL are involved in several neurological and metabolic disorders. Read More

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September 2018