245 results match your criteria Glycogen Storage Disease Type Ib


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

J Oral Maxillofac Surg 2020 Jun 10. 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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http://dx.doi.org/10.1016/j.joms.2020.06.006DOI Listing

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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http://dx.doi.org/10.3390/diagnostics10050297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277974PMC

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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http://dx.doi.org/10.1016/j.ymgmr.2020.100581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7152669PMC

Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor.

Blood 2020 Apr 15. Epub 2020 Apr 15.

Walloon Excellence in Lifesciences and Biotechnology, B-1200 Brussels, Belgium., Belgium.

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

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http://dx.doi.org/10.1182/blood.2019004465DOI Listing

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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http://dx.doi.org/10.3390/metabo10040133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7240959PMC

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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http://dx.doi.org/10.1097/01.JAA.0000657180.03900.c5DOI Listing

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

Biochem Biophys Res Commun 2020 Mar 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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http://dx.doi.org/10.1016/j.bbrc.2020.01.043DOI Listing
March 2020
2.297 Impact Factor

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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http://dx.doi.org/10.1002/1873-3468.13666DOI Listing
January 2020
3.169 Impact Factor

Inborn errors of metabolite repair.

J Inherit Metab Dis 2020 Jan 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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http://dx.doi.org/10.1002/jimd.12187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041631PMC
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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http://dx.doi.org/10.1177/0300060519867819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045669PMC
December 2019
2 Reads

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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http://dx.doi.org/10.1016/j.ejmg.2019.103767DOI Listing
March 2020
5 Reads

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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http://dx.doi.org/10.1002/mgg3.877DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825860PMC
November 2019
1 Read

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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http://dx.doi.org/10.1136/bcr-2019-230660DOI Listing
July 2019
7 Reads

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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http://dx.doi.org/10.1590/1984-0462/;2019;37;4;00005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821486PMC
March 2020
1 Read

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449677PMC
January 2019
14 Reads

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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https://linkinghub.elsevier.com/retrieve/pii/S03781119193034
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http://dx.doi.org/10.1016/j.gene.2019.04.002DOI Listing
June 2019
13 Reads

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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http://Insights.ovid.com/crossref?an=00062752-900000000-9928
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http://dx.doi.org/10.1097/MOH.0000000000000474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000169PMC
January 2019
43 Reads
3.970 Impact Factor

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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http://dx.doi.org/10.3390/dj6040053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6313740PMC
October 2018
34 Reads

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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http://dx.doi.org/10.1007/8904_2018_131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336547PMC
September 2018
13 Reads

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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http://dx.doi.org/10.1016/j.ymgme.2018.07.003DOI Listing
September 2018
83 Reads

Development and characterization of an inducible mouse model for glycogen storage disease type Ib.

J Inherit Metab Dis 2018 11 2;41(6):1015-1025. Epub 2018 Jul 2.

Laboratory of Molecular Biology, Department of Translational Research, Laboratory Medicine, Diagnosis and Services, Istituto Giannina Gaslini, Largo Gaslini 5, 16147, Genoa, Italy.

Background And Aims: Glycogen storage disease type Ib (GSD1b) is a rare metabolic and immune disorder caused by a deficiency in the glucose-6-phosphate transporter (G6PT) and characterized by impaired glucose homeostasis, myeloid dysfunction, and long-term risk of hepatocellular adenomas. Despite maximal therapy, based on a strict diet and on granulocyte colony-stimulating factor treatment, long-term severe complications still develop. Understanding the pathophysiology of GSD1b is a prerequisite to develop new therapeutic strategies and depends on the availability of animal models. Read More

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http://dx.doi.org/10.1007/s10545-018-0211-2DOI Listing
November 2018
20 Reads

The Physiopathological Role of the Exchangers Belonging to the SLC37 Family.

Front Chem 2018 17;6:122. Epub 2018 Apr 17.

Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, Rende, Italy.

The human gene family includes four proteins SLC37A1-4, localized in the endoplasmic reticulum (ER) membrane. They have been grouped into the SLC37 family due to their sequence homology to the bacterial organophosphate/phosphate (Pi) antiporter. SLC37A1-3 are the less characterized isoforms. Read More

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http://dx.doi.org/10.3389/fchem.2018.00122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5913288PMC
April 2018
8 Reads

Case 5: Abdominal Distention, Poor Growth, and Motor Delay in a 1-year-old Girl.

Authors:
James McCarthy

Pediatr Rev 2018 May;39(5):263-264

Departments of Medicine and Pediatrics, Medical College of Wisconsin, Milwaukee, WI.

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http://dx.doi.org/10.1542/pir.2017-0024DOI Listing
May 2018
24 Reads

Molecular biology and gene therapy for glycogen storage disease type Ib.

J Inherit Metab Dis 2018 11 16;41(6):1007-1014. Epub 2018 Apr 16.

Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room 8N240C, NIH 10 Center Drive, Bethesda, MD, 20892-1830, USA.

Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously expressed glucose-6-phosphate (G6P) transporter (G6PT or SLC37A4). The primary function of G6PT is to translocate G6P from the cytoplasm into the lumen of the endoplasmic reticulum (ER). Inside the ER, G6P is hydrolyzed to glucose and phosphate by either the liver/kidney/intestine-restricted glucose-6-phosphatase-α (G6Pase-α) or the ubiquitously expressed G6Pase-β. Read More

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http://dx.doi.org/10.1007/s10545-018-0180-5DOI Listing
November 2018
13 Reads
3.370 Impact Factor

Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients.

J Inherit Metab Dis 2018 11 16;41(6):947-953. Epub 2018 Apr 16.

Centre de Référence des Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, HUPS, AP-HP, Clamart, France.

Glycogen storage diseases (GSDs) are rare genetic disorders of glycogen metabolism where the liver, kidneys, respiratory and cardiac muscles, as well as the immune and skeletal systems can be affected. Oral manifestations can also be present, but the specificity and frequency of these manifestations in the different forms of GSD are unknown. Analysis of a case series of 60 patients presenting four types of GSD (Ia, Ib, III, and IX) showed that the different types of GSDs have common and specific oral manifestations. Read More

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http://dx.doi.org/10.1007/s10545-018-0182-3DOI Listing
November 2018
12 Reads

Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length.

Pediatr Hematol Oncol 2018 Feb 13;35(1):45-51. Epub 2018 Apr 13.

c Department of Pediatrics , University of British Columbia, BC Children's Hospital , Vancouver , BC . Canada.

Glycogen storage disease (GSD) type 1 is a rare autosomal recessive inherited condition. The 1b subtype comprises the minority of cases, with an estimated prevalence of 1 in 500,000 children. Patients with glycogen storage disease type 1b are often treated with granulocyte colony stimulating factor (G-CSF) for prolonged periods to improve symptoms of inflammatory bowel disease (IBD) and in the face of severe neutropenia to decrease risk of infection. Read More

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http://dx.doi.org/10.1080/08880018.2018.1440675DOI Listing
February 2018
10 Reads

Matched unrelated donor transplantation in glycogen storage disease type 1b patient corrects severe neutropenia and recurrent infections.

Bone Marrow Transplant 2018 08 7;53(8):1076-1078. Epub 2018 Mar 7.

Division of Pediatric Hematology, Oncology and Bone Marrow Transplant, Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1038/s41409-018-0147-zDOI Listing
August 2018
11 Reads

Aberrant proliferation and differentiation of glycogen storage disease type Ib mesenchymal stem cells.

FEBS Lett 2018 01 3;592(2):162-171. Epub 2018 Jan 3.

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

Glycogen storage disease type Ib (GSD-Ib) is caused by mutations of the glucose-6-phosphate transporter (G6PT) and characterized by disrupted glucose homeostasis, neutropenia, and neutrophil dysfunction. To investigate the role of G6PT in human adipose-derived mesenchymal stem cells (hMSCs), the G6PT gene was mutated by CRISPR/Cas9 technology and single cell-derived G6PT hMSCs were established. G6PT hMSCs have significantly increased cell proliferation but impaired adipogenesis and osteogenesis. Read More

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http://dx.doi.org/10.1002/1873-3468.12939DOI Listing
January 2018
41 Reads
3.169 Impact Factor

A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy.

JIMD Rep 2018 9;42:5-8. Epub 2017 Nov 9.

Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia.

We report the third case of Glycogen Storage Disease type 1b (GSD 1b) with Giant Cell Tumour (GCT) of the mandible, associated with Granulocyte Colony Stimulating Factor (G-CSF) use. G-CSF in GSD 1b is indicated for persistent neutropaenia, sepsis, inflammatory bowel disease and severe diarrhoea. Our patient was 12 years old at GCT diagnosis and had been treated with G-CSF from 5 years of age. Read More

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http://dx.doi.org/10.1007/8904_2017_67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226394PMC
November 2017
15 Reads

Liver-directed gene therapy for murine glycogen storage disease type Ib.

Hum Mol Genet 2017 11;26(22):4395-4405

Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Glycogen storage disease type-Ib (GSD-Ib), deficient in the glucose-6-phosphate transporter (G6PT), is characterized by impaired glucose homeostasis, myeloid dysfunction, and long-term risk of hepatocellular adenoma (HCA). We examined the efficacy of G6PT gene therapy in G6pt-/- mice using recombinant adeno-associated virus (rAAV) vectors, directed by either the G6PC or the G6PT promoter/enhancer. Both vectors corrected hepatic G6PT deficiency in murine GSD-Ib but the G6PC promoter/enhancer was more efficacious. Read More

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http://dx.doi.org/10.1093/hmg/ddx325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886224PMC
November 2017
27 Reads

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.

Clin Genet 2018 02 11;93(2):350-355. Epub 2017 Dec 11.

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

Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and 5 GSD Ia patients. Read More

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http://dx.doi.org/10.1111/cge.13093DOI Listing
February 2018
60 Reads

Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy.

J Inherit Metab Dis 2017 09 13;40(5):703-708. Epub 2017 Jun 13.

Glycogen Storage Disease Program, University of Florida, Gainesville, FL, USA.

The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to medical intervention, and it is thought to inexorably progress to overt proteinuria and renal failure. Recent reports of reduced microalbuminuria following strict adherence to therapy counter this view. Read More

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http://dx.doi.org/10.1007/s10545-017-0054-2DOI Listing
September 2017
19 Reads
3.365 Impact Factor

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

Ophthalmic Genet 2017 12 16;38(6):544-548. Epub 2017 May 16.

b Department of Genetics , Sultan Qaboos University Hospital , Muscat , Oman.

Aim: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family.

Background: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region. Read More

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http://dx.doi.org/10.1080/13816810.2017.1323340DOI Listing
December 2017
34 Reads

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function.

J Immunol 2017 05 7;198(10):3803-3808. Epub 2017 Apr 7.

Laboratorio di Immunologia, Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale delle Ricerche, 80131 Naples, Italy;

Glycogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucose-6-phosphate transporter and characterized by altered glycogen/glucose homeostasis. A higher frequency of autoimmune diseases has been observed in GSD-1b patients, but the molecular determinants leading to this phenomenon remain unknown. To address this question, we investigated the effect of glucose-6-phosphate transporter mutation on immune cell homeostasis and CD4 T cell functions. Read More

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http://dx.doi.org/10.4049/jimmunol.1601946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421305PMC
May 2017
44 Reads

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.

Ann Lab Med 2017 May;37(3):261-266

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Background: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients.

Methods: Nine Korean patients from eight unrelated families with GSD Ib were included. Read More

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http://dx.doi.org/10.3343/alm.2017.37.3.261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339099PMC
May 2017
68 Reads

Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib.

Int Immunopharmacol 2017 Mar 23;44:216-225. Epub 2017 Jan 23.

Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Muenster, Germany. Electronic address:

Glycogen storage disease type Ib (GSD-Ib) is characterized by impaired glucose homeostasis, neutropenia and neutrophil dysfunction. Mass spectrometric glycomic profiling of GSD-Ib neutrophils showed severely truncated N-glycans, lacking galactose. Experiments indicated the hypoglycosylation of the electron transporting subunit of NADPH oxidase, which is crucial for the defense against bacterial infections. Read More

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http://dx.doi.org/10.1016/j.intimp.2017.01.020DOI Listing
March 2017
40 Reads

Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration.

Biochem Biophys Res Commun 2017 Jan 15;482(4):569-574. Epub 2016 Nov 15.

Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States. Electronic address:

Glycogen storage disease type Ib (GSD-Ib), characterized by impaired glucose homeostasis, neutropenia, and neutrophil dysfunction, is an inherited autosomal recessive disorder caused by a deficiency in the glucose-6-phosphate transporter (G6PT). Neutrophils play an essential role in the defense against invading pathogens. The recruitment of neutrophils towards the inflammation sites in response to inflammatory stimuli is a tightly regulated process involving rolling, adhesion, and transmigration. Read More

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http://dx.doi.org/10.1016/j.bbrc.2016.11.075DOI Listing
January 2017
47 Reads

Rapid height growth after liver transplantation in adulthood.

Growth Horm IGF Res 2016 08 19;29:1-3. Epub 2016 Mar 19.

Semmelweis University, 1st Department of Internal Medicine, Korányi S. u. 2/A, H-1083 Budapest, Hungary. Electronic address:

Glycogen storage disease Ib is a rare, inherited metabolic disorder caused by glucose-6-phosphatase translocase deficiency. Its main symptoms are hypoglycemia, hyperlipidemia, neutropenia, hepatomegaly, liver adenomas and short stature. The exact mechanism of short stature in this disease is unclear, the most feasible possibility is that it is caused by impairment of growth-hormone and insulin-like growth factor I axis. Read More

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http://dx.doi.org/10.1016/j.ghir.2016.03.001DOI Listing
August 2016
40 Reads

FDG PET/CT in Type I Glycogen Storage Disease.

Clin Nucl Med 2016 Apr;41(4):e200-1

From the Departments of *Nuclear Medicine and †Gastroenterology, CHU-Nancy, Nancy, France.

Type I glycogen storage disease (GSD) is a rare autosomal recessive disorder caused by glucose-6-phosphatase deficiency. We report herein the particular pattern provided by FDG PET imaging in a 33-year-old patient with type Ib GSD. PET images yielded evidence of a pulmonary infectious focus as well as of: (1) a dramatically enlarged liver leading to a high global FDG uptake, (2) increased bone marrow activity, (3) splenomegalia leading to a high global spleen uptake, (4) a diffuse enhancement in muscle FDG uptake. Read More

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http://dx.doi.org/10.1097/RLU.0000000000001103DOI Listing
April 2016
45 Reads

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I.

JIMD Rep 2016 25;26:85-90. Epub 2015 Aug 25.

Glycogen Storage Disease Program, Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.

Background: Glycogen storage disease type I (GSD I) causes severe hypoglycemia during periods of fasting since both glycogenolysis and gluconeogenesis are impaired. Primary treatment in North America consists of cornstarch therapy every 3-4 h. Waxy maize extended release cornstarch was introduced for maintaining overnight glucose concentrations, but no studies have assessed long-term safety and efficacy of the product. Read More

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_488
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http://link.springer.com/10.1007/8904_2015_488
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http://dx.doi.org/10.1007/8904_2015_488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864714PMC
May 2016
43 Reads

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.

Orphanet J Rare Dis 2015 Jul 29;10:91. Epub 2015 Jul 29.

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

Background: In GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme playing a key role in the development of the metabolic syndrome (MS).

Objective: To evaluate the prevalence of MS and Insulin Resistance (IR) in GSDIa and GSDIb patients. Read More

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http://dx.doi.org/10.1186/s13023-015-0301-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4518509PMC
July 2015
61 Reads

Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.

JIMD Rep 2016 30;25:39-45. Epub 2015 Jun 30.

Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università degli Studi "Federico II", Naples, Italy.

Background: It has been suggested, on a few GSD1b patients, that vitamin E improves neutrophil count and reduces frequency and severity of infections.The main objective of the present study was to investigate the efficacy of vitamin E on the neutropenia, neutrophil dysfunction and IBD in the entire Italian caseload of GSD1b patients.

Patients And Methods: Eighteen GSD1b patients, median age at the time of the study protocol 14. Read More

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_461
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http://link.springer.com/10.1007/8904_2015_461
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059207PMC
http://dx.doi.org/10.1007/8904_2015_461DOI Listing
June 2015
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High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia.

JIMD Rep 2015 21;24:123-8. Epub 2015 Jun 21.

Glycogen Storage Disease Program, Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida College of Medicine, 100296, Gainesville, FL, 32610-0296, USA.

Most patients with glycogen storage disease (GSD) type Ib show features related to inflammatory bowel disease (IBD). The development of IBD seems to be associated with the defect of neutrophil function in GSD Ib. Patients with GSD Ia were not recognized to have similar gastrointestinal complaints until recently and are not associated with a neutrophil defect. Read More

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http://dx.doi.org/10.1007/8904_2015_452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582023PMC
September 2015
34 Reads

Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b.

BMC Gastroenterol 2015 Apr 8;15:45. Epub 2015 Apr 8.

Department of Medicine I (Gastroenterology, Rheumatology, Infectious Diseases), Charité - Universitätsmedizin Berlin, Berlin, Germany.

Background: Inflammatory bowel disease (IBD)-like conditions in glycogen storage disease (GSD) type Ib have been predominantly described in children. Signs and symptoms of GSD type Ib are hypoglycemia, pancytopenia and hepatosplenomegaly. Based on few published cases, there is evidence that granulocyte-colony stimulating factor (G-CSF) in patients with glycogenosis-related pancytopenia might ameliorate the IBD-like disease through leukocyte increase. Read More

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http://dx.doi.org/10.1186/s12876-015-0271-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394407PMC
April 2015
50 Reads

A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study.

Orphanet J Rare Dis 2015 Feb 15;10:18. Epub 2015 Feb 15.

CHRU de Tours, 37044, Tours, Cedex, France.

Background: Uncooked corn-starch (UCCS) has been the mainstay of therapy for the hepatic glycogen storage diseases (GSD) but is not always effective. A new starch (WMHMS) has demonstrated a more favourable short-term metabolic profile.

Objective: To determine efficacy and safety of a new uncooked starch (WMHMS) compared to UCCS over 16 weeks treatment with each. Read More

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http://dx.doi.org/10.1186/s13023-015-0229-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340332PMC
February 2015
43 Reads

Does type I truly dominate hepatic glycogen storage diseases in Korea?: a single center study.

Pediatr Gastroenterol Hepatol Nutr 2014 Dec 31;17(4):239-47. Epub 2014 Dec 31.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Purpose: There are no studies of hepatic glycogen storage diseases (GSDs) other than type I and III in Korea. We aimed on investigating the characteristics of hepatic GSDs in Korea diagnosed and followed at a single center.

Methods: We retrospectively analyzed patients who were diagnosed as GSD and followed at Samsung Medical Center from January, 1997 to December, 2013. Read More

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http://dx.doi.org/10.5223/pghn.2014.17.4.239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291449PMC
December 2014
46 Reads
3 Citations

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.

Genet Med 2014 Nov;16(11):e1

Purpose: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. 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), resulting in excessive accumulation of glycogen and fat in the liver, kidney, and intestinal mucosa. Patients with GSD I have a wide spectrum of clinical manifestations, including hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, and growth retardation. Read More

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http://dx.doi.org/10.1038/gim.2014.128DOI Listing
November 2014
66 Reads
7.329 Impact Factor

Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I.

JIMD Rep 2015 12;18:23-32. Epub 2014 Oct 12.

Department of Radiology, University of Florida College of Medicine, Gainesville, FL, USA.

Hepatocellular adenomas (HCAs) are a common complication in patients with glycogen storage disease type I (GSD I). In this series, we report regression of HCAs in a cohort of patients who achieved metabolic control with strict dietary therapy. A retrospective review of the clinical records for all patients with GSD I was performed at our institution. Read More

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http://dx.doi.org/10.1007/8904_2014_344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361930PMC
March 2015
31 Reads

Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.

J Inherit Metab Dis 2015 May 7;38(3):511-9. Epub 2014 Oct 7.

Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA,

Disorders of the glucose-6-phosphatase (G6Pase)/glucose-6-phosphate transporter (G6PT) complexes consist of three subtypes: glycogen storage disease type Ia (GSD-Ia), deficient in the liver/kidney/intestine-restricted G6Pase-α (or G6PC); GSD-Ib, deficient in a ubiquitously expressed G6PT (or SLC37A4); and G6Pase-β deficiency or severe congenital neutropenia syndrome type 4 (SCN4), deficient in the ubiquitously expressed G6Pase-β (or G6PC3). G6Pase-α and G6Pase-β are glucose-6-phosphate (G6P) hydrolases with active sites lying inside the endoplasmic reticulum (ER) lumen and as such are dependent upon the G6PT to translocate G6P from the cytoplasm into the lumen. The tissue expression profiles of the G6Pase enzymes dictate the disease's phenotype. Read More

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http://dx.doi.org/10.1007/s10545-014-9772-xDOI Listing
May 2015
57 Reads