1,398 results match your criteria Glucose-6-Phosphatase Deficiency


Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis.

Ann Hepatol 2018 Oct;17(6):903-905

Department of Pathology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, Guangdong Province, PR China.

Glycogen storage disease type I and glycogenic hepatopathy are the most common type of primary and secondary hepatic glycogenosis, with presenting common radiological features of hepatomegaly, hepatic signal, or density change. Beyond that, glycogen storage disease type I shows hepatocellular adenomas or fatty liver, while glycogenic hepatopathy does not. Read More

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https://annalsofhepatology.publisherspanel.com/gicid/01.3001
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http://dx.doi.org/10.5604/01.3001.0012.7189DOI Listing
October 2018
7 Reads

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

Mol Genet Metab 2018 Sep 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
12 Reads

De novo aortopathy and cardiovascular outcomes in paediatric liver transplant recipients.

Cardiol Young 2018 Aug 4;28(8):986-994. Epub 2018 Jul 4.

1Department of Paediatrics,Yong Loo Lin School of Medicine,National University of Singapore,Singapore,Singapore.

With the increase in long-term survival of post-transplant children, there is a paradigm shift in the emphasis of post-transplant care. We describe de novo cardiovascular abnormalities, which occurred in otherwise asymptomatic paediatric liver transplant recipients, who received liver allografts between 1991 and 2014 at the National University Hospital, Singapore, detected during routine post-transplant monitoring. A total of 96 paediatric liver transplants were performed in 90 children. Read More

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http://dx.doi.org/10.1017/S104795111800063XDOI Listing
August 2018
21 Reads

Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia.

J Inherit Metab Dis 2018 Nov 4;41(6):955-963. Epub 2018 Jun 4.

Institut National de la Santé et de la Recherche by Inserm, U1213, 69008, Lyon, France.

Glycogen storage disease type I (GSDI) is a rare genetic pathology characterized by glucose-6 phosphatase (G6Pase) deficiency, translating in hypoglycemia during short fasts. Besides metabolic perturbations, GSDI patients develop long-term complications, especially chronic kidney disease (CKD). In GSDI patients, CKD is characterized by an accumulation of glycogen and lipids in kidneys, leading to a gradual decline in renal function. Read More

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http://dx.doi.org/10.1007/s10545-018-0207-yDOI Listing
November 2018
21 Reads

Learning from claims: hyperbilirubinaemia and kernicterus.

Arch Dis Child Fetal Neonatal Ed 2018 May 25. Epub 2018 May 25.

Maternity and Newborn, NHS Improvement, London, UK.

We examined claims made against the National Health Service (NHS) involving neonatal jaundice in order to determine whether there were lessons that could be learnt from common themes.This was a retrospective anonymised study using information from the NHS Resolution database for 2001-2011.Twenty cases (16 males) had sufficient information for analysis. Read More

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http://dx.doi.org/10.1136/archdischild-2017-314622DOI Listing
May 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
8 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
3 Reads

[Glycogen storage disease type Ⅰa: a rare cause of gout in adolescent and young adult patients].

Zhonghua Nei Ke Za Zhi 2018 Apr;57(4):264-269

Department of General Internal Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

To analyze the clinical features of secondary gout in glycogen storage disease type Ⅰa (GSD Ⅰa), so as to improve the awareness of this disease. The clinical features, laboratory findings, treatments and prognosis of 5 GSD Ⅰa patients with secondary gout who had been admitted to the Peking Union Medical College Hospital during 2006 to 2016 were collected and analyzed. GSD Ⅰa was confirmed by liver biopsy and genotyping. Read More

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http://doi.med.wanfangdata.com.cn/10.3760/cma.j.issn.0578-14
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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2018.04.007DOI Listing
April 2018
9 Reads

Hepatic glucose-6-phosphatase-α deficiency leads to metabolic reprogramming in glycogen storage disease type Ia.

Biochem Biophys Res Commun 2018 04 14;498(4):925-931. Epub 2018 Mar 14.

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:

Glycogen storage disease type Ia (GSD-Ia) is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC), a key enzyme in endogenous glucose production. This autosomal recessive disorder is characterized by impaired glucose homeostasis and long-term complications of hepatocellular adenoma/carcinoma (HCA/HCC). We have shown that hepatic G6Pase-α deficiency-mediated steatosis leads to defective autophagy that is frequently associated with carcinogenesis. Read More

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http://dx.doi.org/10.1016/j.bbrc.2018.03.083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5905716PMC
April 2018
3 Reads
1 Citation
2.300 Impact Factor

Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas.

Hepatology 2018 08 27;68(2):780-782. Epub 2018 Apr 27.

Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/hep.29858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099216PMC
August 2018
4 Reads

Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?

J Inherit Metab Dis 2018 Nov 12;41(6):985-995. Epub 2018 Feb 12.

Department of Translational Medical Science, Section of Pediatrics, Federico II University, Via Sergio Pansini, 5, 80131, Naples, 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). GSDIa patients are at higher risk of developing insulin-resistance (IR). Mitochondrial dysfunction has been implicated in the development of IR. Read More

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http://dx.doi.org/10.1007/s10545-018-0149-4DOI Listing
November 2018
10 Reads

Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly.

J Pediatr Endocrinol Metab 2018 Mar;31(4):473-478

Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA.

Background: Glycogen storage diseases (GSDs) are a collection of disorders related to glycogen synthesis or degradation that classically present in infancy with hypoglycemia, failure to thrive and hepatomegaly; however, their phenotype can vary significantly.

Case Presentation: We present the cases of two children, 5 years old and 3.5 years old, who were referred to endocrinology for short stature. Read More

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http://dx.doi.org/10.1515/jpem-2017-0209DOI Listing
March 2018
8 Reads

Case 3-2018: A 5-Month-Old Boy with Hypoglycemia.

N Engl J Med 2018 Jan;378(4):381-389

From the Department of Medicine, Boston Children's Hospital (Y.-M.C.), the Departments of Radiology (R.B.) and Pediatrics (F.A.H.), Massachusetts General Hospital, and the Departments of Pediatrics (Y.-M.C., F.A.H.) and Radiology (R.B.), Harvard Medical School - all in Boston.

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http://dx.doi.org/10.1056/NEJMcpc1706107DOI Listing
January 2018
3 Reads

Flux analysis of inborn errors of metabolism.

Authors:
D-J Reijngoud

J Inherit Metab Dis 2018 May 9;41(3):309-328. Epub 2018 Jan 9.

Section of Systems Medicine and Metabolic Signaling, Laboratory of Pediatrics, Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites through the different metabolic pathways in this new steady state of the reprogrammed metabolism. Read More

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http://dx.doi.org/10.1007/s10545-017-0124-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959979PMC
May 2018
5 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
9 Reads

Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report.

J Med Case Rep 2017 Nov 12;11(1):319. Epub 2017 Nov 12.

Department of Internal Medicine, Rutgers Robert Wood Johnson Medical School, 1 RWJ Place, MEB 486 PO Box 19, New Brunswick, NJ, 08903, USA.

Background: Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing diabetes in these patients is unclear, and there are no guidelines for treatment. Read More

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http://dx.doi.org/10.1186/s13256-017-1462-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682031PMC
November 2017
9 Reads

Clinical characteristics and muscle glycogen concentrations in warmblood horses with polysaccharide storage myopathy.

Am J Vet Res 2017 Nov;78(11):1305-1312

OBJECTIVE To characterize clinical findings for polysaccharide storage myopathy (PSSM) in warmblood horses with type 1 PSSM (PSSM1; caused by mutation of the glycogen synthase 1 gene) and type 2 PSSM (PSSM2; unknown etiology). SAMPLE Database with 3,615 clinical muscle biopsy submissions. PROCEDURES Reported clinical signs and serum creatine kinase (CK) and aspartate aminotransferase (AST) activities were retrospectively analyzed for horses with PSSM1 (16 warmblood and 430 nonwarmblood), horses with PSSM2 (188 warmblood and 646 nonwarmblood), and warmblood horses without PSSM (278). Read More

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http://dx.doi.org/10.2460/ajvr.78.11.1305DOI Listing
November 2017
47 Reads

Dietary Therapy for Von Gierke's Disease: A Case Report.

Cureus 2017 Aug 8;9(8):e1548. Epub 2017 Aug 8.

Department of Oncology, Jinnah Post Graduate Medical Centre, Karachi, Pakistan.

Von Gierke's disease, also known as glycogen storage disease (GSD) type 1A, is an autosomal recessive disease in which there is an inability to cleave glycogen to glucose because of a glucose 6 phosphate deficiency resulting in hypoglycemia and lactic acidosis. The patient may present with hepatomegaly and signs and symptoms of hypoglycemia. We diagnosed a case of Von Gierke's disease in a seven-month-old female infant who was admitted for abdominal distension, vomiting, and lethargy for a duration of four months with characteristic rounded doll's face, fatty cheeks, protuberant abdomen, and massive hepatomegaly. Read More

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http://dx.doi.org/10.7759/cureus.1548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630462PMC
August 2017
15 Reads

Patients with glycogen storage diseases undergoing anesthesia: a case series.

BMC Anesthesiol 2017 Oct 6;17(1):134. Epub 2017 Oct 6.

Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, 200 First St SW, Rochester, MN, 55905, USA.

Background: Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis, myoglobinuria, acute renal failure, and postoperative fatigue. The objective of this study was to describe the perioperative course of a cohort of patients with glycogen storage diseases. Read More

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http://dx.doi.org/10.1186/s12871-017-0428-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639598PMC
October 2017
6 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
11 Reads

[Characteristics of lipid metabolism and the cardiovascular system in glycogenosis types I and III].

Ter Arkh 2017;89(8):88-94

Federal Research Center of Nutrition and Biotechnology, Moscow, Russia.

Glycogen storage disease (GSD) is an inherited metabolic disorder characterized by early childhood lipid metabolic disturbances with potentially proatherogenic effects. The review outlines the characteristics of impaired lipid composition and other changes in the cardiovascular system in GSD types I and III. It analyzes the factors enabling and inhibiting the development of atherosclerosis in patients with GSD. Read More

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http://dx.doi.org/10.17116/terarkh201789888-94DOI Listing
December 2017
6 Reads

Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia.

Mol Genet Metab 2017 11 1;122(3):95-98. Epub 2017 Sep 1.

Cardiovascular and Metabolic Disorders Program, Duke-NUS Medical School, Singapore, Singapore; Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, NC, USA. Electronic address:

GSD Ia (von Gierke Disease, Glycogen Storage Disease Type Ia) is a devastating genetic disorder with long-term sequelae, such as non-alcoholic fatty liver disease and renal failure. Down-regulated autophagy is involved in the development of hepatic metabolic dysfunction in GSD Ia; however, the role of autophagy in the renal pathology is unknown. Here we show that autophagy is impaired and endoplasmic reticulum (ER) stress is increased in the kidneys of a mouse model of GSD Ia. Read More

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http://dx.doi.org/10.1016/j.ymgme.2017.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722666PMC
November 2017
33 Reads

Hepatocytes contribute to residual glucose production in a mouse model for glycogen storage disease type Ia.

Hepatology 2017 12 30;66(6):2042-2054. Epub 2017 Oct 30.

Department of Pediatrics, Center for Liver Digestive and Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

It is a long-standing enigma how glycogen storage disease (GSD) type I patients retain a limited capacity for endogenous glucose production despite the loss of glucose-6-phosphatase activity. Insight into the source of residual endogenous glucose production is of clinical importance given the risk of sudden death in these patients, but so far contradictory mechanisms have been proposed. We investigated glucose-6-phosphatase-independent endogenous glucose production in hepatocytes isolated from a liver-specific GSD Ia mouse model (L-G6pc mice) and performed real-time analysis of hepatic glucose fluxes and glycogen metabolism in L-G6pc mice using state-of-the-art stable isotope methodologies. Read More

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http://dx.doi.org/10.1002/hep.29389DOI Listing
December 2017
47 Reads

Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control.

Pediatr Diabetes 2017 08 1;18(5):327-331. Epub 2017 Jun 1.

Glycogen Storage Disease Program, Connecticut Children's Medical Center, Hartford, Connecticut.

Prior to 1971, type Ia glycogen storage disease was marked by life-threatening hypoglycemia, lactic acidosis, severe failure to thrive, and developmental delay. With the introduction of continuous feeds in the 1970s and cornstarch in the 1980s, the prognosis improved, but complications almost universally developed. Changes in the management of type Ia glycogen storage disease have resulted in improved metabolic control, and this manuscript reviews the increasing evidence that complications can be delayed or prevented with optimal metabolic control as previously was seen in diabetes. Read More

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http://dx.doi.org/10.1111/pedi.12540DOI Listing
August 2017
11 Reads

Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia.

PLoS Genet 2017 May 30;13(5):e1006819. Epub 2017 May 30.

Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America.

A deficiency in glucose-6-phosphatase-α (G6Pase-α) in glycogen storage disease type Ia (GSD-Ia) leads to impaired glucose homeostasis and metabolic manifestations including hepatomegaly caused by increased glycogen and neutral fat accumulation. A recent report showed that G6Pase-α deficiency causes impairment in autophagy, a recycling process important for cellular metabolism. However, the molecular mechanism underlying defective autophagy is unclear. Read More

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http://dx.doi.org/10.1371/journal.pgen.1006819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469511PMC
May 2017
28 Reads

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
19 Reads

3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk.

Clin Chim Acta 2017 Aug 11;471:46-54. Epub 2017 May 11.

Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai, India. Electronic address:

The frequency of rs2229611, previously reported in Chinese, Caucasians, Japanese and Hispanics, was investigated for the first time in Indian ethnicity. We analyzed its role in the progression of Glycogen Storage Disease type-Ia (GSD-Ia) and breast cancer. Genotype data on rs2229611 revealed that the risk of GSD-Ia was higher (P=0. Read More

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http://dx.doi.org/10.1016/j.cca.2017.05.016DOI Listing
August 2017
16 Reads

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.

J Inherit Metab Dis 2017 09 10;40(5):695-702. Epub 2017 Apr 10.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30 001, Groningen, 9700 RB, The Netherlands.

Objective: To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase).

Study Design: Descriptive retrospective study of longitudinal clinical and biochemical data and long-term complications in 20 GSD Ia patients. We included 11 patients with homozygous G6PC mutations and siblings from four families carrying identical G6PC genotypes. Read More

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http://dx.doi.org/10.1007/s10545-017-0039-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579135PMC
September 2017
10 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
14 Reads

Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy.

Hum Mol Genet 2017 05;26(10):1890-1899

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

Glycogen storage disease type Ia (GSD-Ia) is characterized by impaired glucose homeostasis and long-term risks of hepatocellular adenoma (HCA) and carcinoma (HCC). We have shown that the non-tumor-bearing (NT), recombinant adeno-associated virus (rAAV) vector-treated GSD-Ia mice (AAV-NT mice) expressing a wide range (0.9-63%) of normal hepatic glucose-6-phosphatase-α activity maintain glucose homeostasis and display physiologic features mimicking animals living under calorie restriction (CR). Read More

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http://dx.doi.org/10.1093/hmg/ddx097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075378PMC
May 2017
25 Reads

Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa).

Sci Rep 2017 03 20;7:44408. Epub 2017 Mar 20.

Cardiovascular and Metabolic Disorders Program, Duke-NUS Medical School Singapore, Singapore.

Glycogen storage disease type Ia (GSDIa, von Gierke disease) is the most common glycogen storage disorder. It is caused by the deficiency of glucose-6-phosphatase, an enzyme which catalyses the final step of gluconeogenesis and glycogenolysis. Clinically, GSDIa is characterized by fasting hypoglycaemia and hepatic glycogen and triglyceride overaccumulation. Read More

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http://dx.doi.org/10.1038/srep44408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357851PMC
March 2017
15 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
24 Reads

[Crohn's disease in glycogen storage disease type I b: a case report].

Authors:
X Xu Y Xiao W J Qiu

Zhonghua Er Ke Za Zhi 2017 Feb;55(2):144-145

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2017.02.018DOI Listing
February 2017
3 Reads

Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.

JIMD Rep 2017 4;36:79-84. Epub 2017 Feb 4.

Division of Endocrinology, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada.

Background: Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles. We describe hypogonadotropic hypogonadism as a novel complication in glycogen storage disease (GSD) type 1. Read More

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http://dx.doi.org/10.1007/8904_2016_38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680278PMC
February 2017
23 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
11 Reads

Glycogen storage disease type Ia mice with less than 2% of normal hepatic glucose-6-phosphatase-α activity restored are at risk of developing hepatic tumors.

Mol Genet Metab 2017 03 10;120(3):229-234. Epub 2017 Jan 10.

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

Glycogen storage disease type Ia (GSD-Ia), characterized by impaired glucose homeostasis and chronic risk of hepatocellular adenoma (HCA) and carcinoma (HCC), is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC). We have previously shown that G6pc-/- mice receiving gene transfer mediated by rAAV-G6PC, a recombinant adeno-associated virus (rAAV) vector expressing G6Pase-α, and expressing 3-63% of normal hepatic G6Pase-α activity maintain glucose homeostasis and do not develop HCA/HCC. However, the threshold of hepatic G6Pase-α activity required to prevent tumor formation remained unknown. Read More

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http://dx.doi.org/10.1016/j.ymgme.2017.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346453PMC
March 2017
12 Reads

A pediatric patient with glycogen storage disease type IA and Castleman disease.

Pediatr Blood Cancer 2017 08 30;64(8). Epub 2016 Dec 30.

Department of Pediatric Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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http://dx.doi.org/10.1002/pbc.26431DOI Listing
August 2017
6 Reads

Evaluation of central nervous system in patients with glycogen storage disease type 1a.

Turk J Pediatr 2016 ;58(1):12-18

Divisions of Pediatric Gastroenterology and Hepatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children. Read More

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May 2017
48 Reads

Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report.

Mol Clin Oncol 2016 Nov 21;5(5):599-603. Epub 2016 Sep 21.

Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Fukuoka 812-8582, Japan.

Malignant transformation of hepatocellular adenoma (HA) is relatively rare and has been reported to be associated with dysregulation of the β-catenin pathway. The presence of bone marrow metaplasia in HA is an uncommon histological characteristic. The current report presents the case of a 46-year-old woman with glycogen storage disease type I (von Gierke's disease) who underwent resection of hepatocellular carcinoma (HCC) arising in a HA with associated bone marrow metaplasia producing three series of hematopoietic cells. Read More

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http://dx.doi.org/10.3892/mco.2016.1034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103882PMC
November 2016
16 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
9 Reads

Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia.

Mol Med Rep 2016 Oct 9;14(4):3251-4. Epub 2016 Aug 9.

Department of Pediatrics, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.

Glycogen storage disease type‑Ia (GSD‑Ia) is a rare autosomal recessive disease caused by a mutation in the gene encoding glucose‑6‑phosphate‑α (G6PC). The present study reported the case of a 3‑month‑old female Chinese patient with GSD‑Ia born to consanguineous parents. The aim of the present study was to identify the precise mutation of the G6PC gene associated with this family and to describe the phenotypic characteristics of the patient. Read More

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http://dx.doi.org/10.3892/mmr.2016.5617DOI Listing
October 2016
17 Reads

Progressive development of renal cysts in glycogen storage disease type I.

Hum Mol Genet 2016 09 19;25(17):3784-3797. Epub 2016 Jul 19.

Institut National de la Santé et de la Recherche Médicale, U1213, Lyon, France

Glycogen storage disease type I (GSDI) is a rare metabolic disease due to glucose-6 phosphatase deficiency, characterized by fasting hypoglycemia. Patients also develop chronic kidney disease whose mechanisms are poorly understood. To decipher the process, we generated mice with a kidney-specific knockout of glucose-6 phosphatase (K. Read More

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http://hmg.oxfordjournals.org/content/early/2016/08/08/hmg.d
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http://dx.doi.org/10.1093/hmg/ddw224DOI Listing
September 2016
18 Reads

Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.

Clin Rheumatol 2016 Nov 2;35(11):2851-2856. Epub 2016 May 2.

Department of General Internal Medicine, Chinese Academy of Sciences and Peking Union Medical College, Peking Union Medical College Hospital, No. 1 Shuaifuyuan Street, Dongcheng District, Beijing, China.

A young female with recurrent tophaceous gout and infertility presented to our clinic. On clinical evaluation, hypoglycaemia, hypertriglyceridaemia, lactic acidosis, and hepatomegaly were noted. Targeted gene sequencing revealed a novel composite heterozygous c. Read More

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http://dx.doi.org/10.1007/s10067-016-3290-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5063890PMC
November 2016
14 Reads

Alopecia Areata After Vaccination: Recurrence with Rechallenge.

Pediatr Dermatol 2016 May 13;33(3):e218-9. Epub 2016 Apr 13.

Department of Dermatology, Cathay General Hospital, Taipei, Taiwan.

Alopecia areata (AA) is the most common form of hair loss in children. We report the case of a child who had two episodes of AA after two different vaccines with complete hair regrowth between the episodes. This case supports the concept that vaccination might be a trigger for the development of AA in genetically predisposed children. Read More

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http://doi.wiley.com/10.1111/pde.12849
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http://dx.doi.org/10.1111/pde.12849DOI Listing
May 2016
94 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
8 Reads

Liver transplantation for adenomatosis: European experience.

Liver Transpl 2016 Apr;22(4):516-26

Service de Pathologie, INSERM U1053, Université Bordeaux Segalen, Hôpital Pellegrin, Bordeaux, France.

The aim of this study was to collect data from patients who underwent liver transplantation (LT) for adenomatosis; to analyze the symptoms, the characteristics of the disease, and the recipient outcomes; and to better define the role of LT in this rare indication. This retrospective multicenter study, based on data from the European Liver Transplant Registry, encompassed patients who underwent LT for adenomatosis between January 1, 1986, and July 15, 2013, in Europe. Patients with glycogen storage disease (GSD) type IA were not excluded. Read More

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https://www.researchgate.net/profile/Vincenzo_Scuderi/public
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http://dx.doi.org/10.1002/lt.24417DOI Listing
April 2016
29 Reads

In Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA.

Mol Ther 2016 Apr 11;24(4):697-706. Epub 2016 Feb 11.

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.

Glycogen storage disease type Ia (GSD Ia) is caused by glucose-6-phosphatase (G6Pase) deficiency in association with severe, life-threatening hypoglycemia that necessitates lifelong dietary therapy. Here we show that use of a zinc-finger nuclease (ZFN) targeted to the ROSA26 safe harbor locus and a ROSA26-targeting vector containing a G6PC donor transgene, both delivered with adeno-associated virus (AAV) vectors, markedly improved survival of G6Pase knockout (G6Pase-KO) mice compared with mice receiving the donor vector alone (P < 0.04). Read More

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http://dx.doi.org/10.1038/mt.2016.35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886939PMC
April 2016
19 Reads