1,482 results match your criteria Glucose-6-Phosphatase Deficiency


LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE.

Arq Gastroenterol 2021 Jan-Mar;58(1):87-92

Universidade Estadual de Campinas (Unicamp), Faculdade de Ciências Médicas, Departamento de Pediatria, Campinas, SP, Brasil.

Background: Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, in addition to the well-known metabolic manifestations of GSD. Treatment with granulocyte-colony stimulating factor (G-CSF) is often indicated in the management of neutropenia and inflammatory bowel disease.

Objective: To report on the demographics, genotype, clinical presentation, management, and complications of pediatric patients with glycogen storage disease type 1b (GSD 1b), with special attention to immune-related complications. Read More

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SGLT2 inhibition alleviated hyperglycemia, glucose intolerance, and dumping syndrome-like symptoms in a patient with glycogen storage disease type Ia: a case report.

J Med Case Rep 2021 Feb 16;15(1):75. Epub 2021 Feb 16.

Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto City, Kumamoto Prefecture, 860-8556, Japan.

Background: Glycogen storage disease (GSD) type Ia is a glycogenesis disorder with long-term complications such as hepatomegaly and renal dysfunction and is caused by congenital loss of glucose-6-phosphatase (G6Pase) expression. G6Pase is essential for the final step of gluconeogenesis and glycogenolysis, and its deficiency causes clinical hypoglycemia in the fasting state during infancy. Contrastingly, patients also show blood glucose trends and glucose intolerance similar to those in type II diabetes. Read More

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February 2021

"Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reports.

World J Clin Cases 2021 Feb;9(4):871-877

Department of Radiology, Duke University Medical Center, Durham, NC 27710, United States.

Background: Hepatocellular adenomas are rare tumors that can occur in patients with glycogen storage disease type I.

Case Summary: We herein report two cases of histologically proven hepatocellular adenomas in patients with glycogen storage disease type I. Magnetic resonance imaging (MRI) was performed after bolus injection of gadoxetate disodium, a liver-specific gadolinium-based MRI contrast agent. Read More

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February 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

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

Case 38-2020: A 52-Year-Old Man with Cancer and Acute Hypoxemia.

N Engl J Med 2020 Dec;383(24):2372-2383

From the Departments of Medicine (L.X.M., A.L.L., D.J.K.), Radiology (F.J.S.), and Pathology (G.K.M.), Massachusetts General Hospital, and the Departments of Medicine (L.X.M., A.L.L., D.J.K.), Radiology (F.J.S.), and Pathology (G.K.M.), Harvard Medical School - both in Boston.

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December 2020

-Butyl Hydroperoxide (tBHP)-Induced Lipid Peroxidation and Embryonic Defects Resemble Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in .

Int J Mol Sci 2020 Nov 18;21(22). Epub 2020 Nov 18.

Research Center for Chinese Herbal Medicine, Graduate Institute of Health Industry Technology, College of Human Ecology, Chang Gung University of Science and Technology, Taoyuan 333324, Taiwan.

G6PD is required for embryonic development in animals, as severe G6PD deficiency is lethal to mice, zebrafish and nematode. Lipid peroxidation is linked to membrane-associated embryonic defects in (). However, the direct link between lipid peroxidation and embryonic lethality has not been established. Read More

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November 2020

Lipid status and linear relationship between total cholesterol and triglycerides in glycogen storage disease type I.

Eur Rev Med Pharmacol Sci 2020 10;24(19):10036-10044

Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Objective: Glycogen storage disease type Ia (GSDIa) is a glucose metabolic disorder. GSDIa patients are characterized by hypoglycemia, hepatomegaly, hyperlipidemia, and hyperlactacidemia. This retrospective study aimed to review the lipid status, explore lipid treatment targets, and assess preferable lipid-lowering drugs. Read More

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October 2020

A case report of acute pancreatitis with glycogen storage disease type IA in an adult patient and review of the literature.

Medicine (Baltimore) 2020 Oct;99(42):e22644

The Department of Gastroenterology.

Rationale: Glycogen storage disease type IA (GSD IA) is an inherited disorder of glycogen metabolism characterized by fasting hypoglycemia, hyperuricemia, and hyperlipidemia including hypertriglyceridemia (HTG). Patients have a higher risk of developing acute pancreatitis (AP) because of HTG. AP is a potentially life-threatening disease with a wide spectrum severity. Read More

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October 2020

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients.

Front Pediatr 2020 11;8:591. Epub 2020 Sep 11.

Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

A retrospective chart review of 32 GSD- I patients, followed at the American University of Beirut Medical Center, between 2007 and 2018 was conducted. Diagnosis was confirmed by enzymatic and/or genetic studies. Clinical presentation, growth, and kidney outcome were assessed. Read More

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September 2020

A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity.

Neonatology 2020 28;117(4):532-535. Epub 2020 Sep 28.

Division of Neonatology, Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.

We report a novel glucose-6-phosphate dehydrogenase (G6PD) variant (c.1375C>G) discovered in a 3-day-old Hispanic male child from Salt Lake City, UT, USA. This newborn presented with severe hyperbilirubinemia (29. Read More

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September 2020

[A case of glycogen storage disease type Ⅰa with gout as the main clinical manifestation].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Oct;37(10):1162-1166

Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

Objective: To explore the genetic etiology of a patient with glycogen accumulation type Ⅰa with gout as the main clinical feature.

Methods: Clinical data of the patient was collected. The patient and her parents were subjected to next generation sequencing (NGS). Read More

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October 2020

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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Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.

J Pediatr Endocrinol Metab 2020 Sep;33(9):1117-1123

Department of Pediatric Medicine, Division of Pediatric Gastroenterology, Hepatology & Nutrition, The Children's Hospital & Institute of Child Health, Lahore, Pakistan.

Background PHKG2-related liver phosphorylase kinase deficiency is inherited in autosomal recessive pattern and is a rare type of liver glycogenosis. We demonstrated the clinical presentation and genetic determinants involved in children with PHKG2- related liver phosphorylase kinase deficiency. Methodology Ten Pakistani children with liver phosphorylase kinase from seven different families, were enrolled over a period of 18 months. Read More

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September 2020

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

An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia.

J Pediatr Endocrinol Metab 2020 May 21;33(6):803-808. Epub 2020 May 21.

Department of Pediatric Gastroenterology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 Xueyuan Western Road, Wenzhou, Zhejiang Province, China.

Background Marked hypertriglyceridemia in infancy is extremely rare. Patients with severe hypertriglyceridemia in early life may be unmasked by a primary or secondary cause. Case presentation A female infant was born in a good condition with normal Apgar scores. Read More

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Gene therapy using a novel G6PC-S298C variant enhances the long-term efficacy for treating glycogen storage disease type Ia.

Biochem Biophys Res Commun 2020 06 16;527(3):824-830. Epub 2020 May 16.

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

The current phase I/II clinical trial for human glycogen storage disease type-Ia (GSD-Ia) (NCT03517085) uses a recombinant adeno-associated virus (rAAV) vector expressing a codon-optimized human glucose-6-phosphatase-α (G6Pase-α or G6PC). DNA sequence changes introduced by codon-optimization can negatively impact gene expression. We therefore generated a novel variant in which a single amino acid change, S298C, is introduced into the native human G6PC sequence. Read More

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Glycogen Storage Disease Type I (Von Gierke disease): Report of Two Cases with Severe Dyslipidemia.

Arq Bras Cardiol 2020 04 18;114(4 Suppl 1):23-26. Epub 2020 May 18.

Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brasil.

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Novel variants in Turkish patients with glycogen storage disease.

Pediatr Int 2020 Oct 28;62(10):1145-1150. Epub 2020 Sep 28.

Division of Pediatric Metabolism, Kanuni Sultan Süleyman Training and Research Hospital, University of Health Sciences, İstanbul, Turkey.

Background: Glycogen storage diseases (GSD) are disorders of autosomal recessive carbohydrate metabolism, characterized by glycogen accumulation. The liver and muscle tissue are commonly affected but patients may present with different clinical manifestations. The presence of glycogen can be demonstrated in biopsies and definitive diagnosis can be made by enzymatic or molecular analysis. Read More

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October 2020

Hepatocellular carcinoma with glycogen storage disease type 1a.

Pediatr Int 2020 06 24;62(6):744-745. Epub 2020 Apr 24.

Division of Pediatric Surgery, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.

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Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.

Orphanet J Rare Dis 2020 04 19;15(1):99. Epub 2020 Apr 19.

Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Section of Pediatrics, University of Salerno, Via Salvador Allende, 43 84081, Baronissi (Salerno), Italy.

Background: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). Glucose 6-phosphate (G6P) availability has been shown to modulate 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme catalyzing the local conversion of inactive cortisone into active cortisol. Adrenal cortex assessment has never been performed in GSDI. 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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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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How could hypoglycemia-inducing glycogen storage disease lead to hyperglycemia-induced mucormycosis?

Autops Case Rep 2020 Jan-Mar;10(1):e2020149. Epub 2020 Feb 6.

Mercer University School of Medicine. Macon, GA, United States of America.

Mucormycosis is an increasingly frequent, difficult to diagnose, difficult to treat, often fatal infection, especially in patients with hyperglycemia from uncontrolled diabetes. Type I (von Gierke) glycogen storage disease is due to inherited deficiency of enzymes in glycogen metabolism, which causes hypoglycemia. This report is the case of a patient with von Gierke disease and a missed diagnosis of pulmonary mucormycosis. Read More

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February 2020

Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia.

JIMD Rep 2020 Mar 29;52(1):17-22. Epub 2020 Jan 29.

APHP, Hôpitaux Universitaires Paris Sud, Hôpital Antoine Béclère, Centre de référence des maladies héréditaires du métabolisme hépatique Clamart France.

Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disease due to glucose-6-phosphatase deficiency. Chronic kidney disease is a frequent complication that may manifest itself by glomerular lesions and tubular dysfunction from the second decade of life. We report two young GSDIa patients with malignant renal tumor. Read More

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Application of nutrient essentiality criteria to dietary carbohydrates.

Nutr Res Rev 2020 12 27;33(2):260-270. Epub 2020 Feb 27.

Division of General Internal Medicine, Department of Medicine, Duke University Medical Center, Durham, NC, USA.

The purpose of the present review is to describe how human physiology at very low carbohydrate intakes relates to the criteria for nutritional essentiality. Although we did not limit ourselves to one particular type or function of carbohydrates, we did primarily focus on glucose utilisation as that function was used to determine the recommended daily allowance. In the general population, the human body is able to endogenously synthesise carbohydrates, and does not show signs of deficiency in the absence of dietary carbohydrates. Read More

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December 2020

Hepatic Carbohydrate Response Element Binding Protein Activation Limits Nonalcoholic Fatty Liver Disease Development in a Mouse Model for Glycogen Storage Disease Type 1a.

Hepatology 2020 11 30;72(5):1638-1653. Epub 2020 Oct 30.

Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

Background And Aims: Glycogen storage disease (GSD) type 1a is an inborn error of metabolism caused by defective glucose-6-phosphatase catalytic subunit (G6PC) activity. Patients with GSD 1a exhibit severe hepatomegaly due to glycogen and triglyceride (TG) accumulation in the liver. We have shown that the activity of carbohydrate response element binding protein (ChREBP), a key regulator of glycolysis and de novo lipogenesis, is increased in GSD 1a. Read More

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November 2020

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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The Glycogen Storage Disorders.

Pediatr Rev 2020 Jan;41(1):41-44

Pace University School of Nursing, Pleasantville, NY.

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January 2020