208 results match your criteria Glycogen Storage Disease Type Ia


Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia.

Mol Ther Methods Clin Dev 2019 Jun 10;13:265-273. Epub 2019 Feb 10.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

Glycogen storage disease type Ia (GSD Ia) is a rare inherited disease caused by mutations in the glucose-6-phosphatase (G6Pase) catalytic subunit gene (). Absence of G6Pase causes life-threatening hypoglycemia and long-term complications because of the accumulations of metabolic intermediates. Bezafibrate, a pan-peroxisome proliferator-activated receptor (PPAR) agonist, was administered in the context of genome editing with a zinc-finger nuclease-containing vector (AAV-ZFN) and a G6Pase donor vector (AAV-RoG6P). Read More

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http://dx.doi.org/10.1016/j.omtm.2019.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395830PMC

An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia.

J Inherit Metab Dis 2019 Feb 3. Epub 2019 Feb 3.

Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

Glycogen storage disease type-Ia (GSD-Ia), caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC), is characterized by impaired glucose homeostasis with a hallmark hypoglycemia, following a short fast. We have shown that G6pc-deficient (G6pc-/-) mice treated with recombinant adeno-associated virus (rAAV) vectors expressing either wild-type (WT) (rAAV-hG6PC-WT) or codon-optimized (co) (rAAV-co-hG6PC) human (h) G6Pase-α maintain glucose homeostasis if they restore ≥3% of normal hepatic G6Pase-α activity. The co vector, which has a higher potency, is currently being used in a phase I/II clinical trial for human GSD-Ia (NCT 03517085). Read More

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http://dx.doi.org/10.1002/jimd.12069DOI Listing
February 2019
14 Reads

Gene therapy prevents hepatic tumor initiation in murine glycogen storage disease type Ia at the tumor-developing stage.

J Inherit Metab Dis 2019 Jan 14. Epub 2019 Jan 14.

Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.

Hepatocellular adenoma/carcinoma (HCA/HCC) is a long-term complication of glycogen storage disease type-Ia (GSD-Ia), which is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC), a key enzyme in gluconeogenesis. Currently, there is no therapy to address HCA/HCC in GSD-Ia. We have previously shown that a recombinant adeno-associated virus (rAAV) vector-mediated G6PC gene transfer to 2-week-old G6pc-/- mice prevents HCA development. Read More

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http://dx.doi.org/10.1002/jimd.12056DOI Listing
January 2019
2 Reads

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis.

Hereditas 2018 28;155:32. Epub 2018 Sep 28.

1Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, 410078 Hunan China.

Background: For a proportion of individuals judged clinically to have a recessive Mendelian disease, only one heterozygous pathogenic variant can be found from clinical whole exome sequencing (WES), posing a challenge to genetic diagnosis and genetic counseling. One possible reason is the limited ability to detect disease causal structural variants (SVs) from short reads sequencing technologies. Long reads sequencing can produce longer reads (typically 1000 bp or longer), therefore offering greatly improved ability to detect SVs that may be missed by short-read sequencing. Read More

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https://hereditasjournal.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/s41065-018-0069-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162922PMC
October 2018
5 Reads
1.120 Impact Factor

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.

Hum Mol Genet 2019 Jan;28(1):143-154

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

Glucose-6-phosphatase α (G6Pase) deficiency, also known as von Gierke's Disease or Glycogen storage disease type Ia (GSD Ia), is characterized by decreased ability of the liver to convert glucose-6-phosphate to glucose leading to glycogen accumulation and hepatosteatosis. Long-term complications of GSD Ia include hepatic adenomas and carcinomas, in association with the suppression of autophagy in the liver. The G6pc-/- mouse and canine models for GSD Ia were treated with the pan-peroxisomal proliferator-activated receptor agonist, bezafibrate, to determine the drug's effect on liver metabolism and function. Read More

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298237PMC
January 2019
28 Reads

Letter to the Editors: Concerning "Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia" by Lee et al.

J Inherit Metab Dis 2018 Nov 25;41(6):913-914. Epub 2018 Sep 25.

Division of Medical Genetics, Duke University Medical Center, DUMC Box 103856, Durham, NC, 27710, USA.

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http://link.springer.com/10.1007/s10545-018-0248-2
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http://dx.doi.org/10.1007/s10545-018-0248-2DOI Listing
November 2018
21 Reads

Dietary exacerbation of metabolic stress leads to accelerated hepatic carcinogenesis in glycogen storage disease type Ia.

J Hepatol 2018 Nov 5;69(5):1074-1087. Epub 2018 Sep 5.

Institut National de la Santé et de la Recherche Médicale, U1213, Lyon F-69008, France; Université de Lyon, Lyon F-69008 France; Université Lyon I, Villeurbanne F-69622 France. Electronic address:

Background & Aims: Glycogen storage disease type Ia (GSDIa) is a rare genetic disease associated with glycogen accumulation in hepatocytes and steatosis. With age, most adult patients with GSDIa develop hepatocellular adenomas (HCA), which can progress to hepatocellular carcinomas (HCC). In this study, we characterized metabolic reprogramming and cellular defense alterations during tumorigenesis in the liver of hepatocyte-specific G6pc deficient (L. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01688278183227
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http://dx.doi.org/10.1016/j.jhep.2018.07.017DOI Listing
November 2018
34 Reads

Intracellular lipids are an independent cause of liver injury and chronic kidney disease in non alcoholic fatty liver disease-like context.

Mol Metab 2018 Oct 1;16:100-115. Epub 2018 Aug 1.

Institut National de la Santé et de la Recherche Médicale, U1213, Lyon, F-69008, France; Université de Lyon, Lyon, F-69008, France; Université Lyon1, Villeurbanne, F-69622, France. Electronic address:

Objective: Ectopic lipid accumulation in the liver and kidneys is a hallmark of metabolic diseases leading to non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). Moreover, recent data have highlighted a strong correlation between NAFLD and CKD incidences. In this study, we use two mouse models of hepatic steatosis or CKD, each initiated independently of the other upon the suppression of glucose production specifically in the liver or kidneys, to elucidate the mechanisms underlying the development of CKD in the context of NAFLD-like pathology. Read More

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http://dx.doi.org/10.1016/j.molmet.2018.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157648PMC
October 2018
4 Reads

Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.

J Inherit Metab Dis 2018 Nov 24;41(6):965-976. Epub 2018 Jul 24.

Division of Medical Genetics, Duke University Medical Center (DUMC), Box 103856, Durham, NC, 27710, USA.

Background: Glycogen storage disease type Ia (GSD Ia) in dogs closely resembles human GSD Ia. Untreated patients with GSD Ia develop complications associated with glucose-6-phosphatase (G6Pase) deficiency. Survival of human patients on intensive nutritional management has improved; however, long-term complications persist including renal failure, nephrolithiasis, hepatocellular adenomas (HCA), and a high risk for hepatocellular carcinoma (HCC). Read More

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http://link.springer.com/10.1007/s10545-018-0223-y
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http://dx.doi.org/10.1007/s10545-018-0223-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328337PMC
November 2018
23 Reads

Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia.

J Inherit Metab Dis 2018 Nov 25;41(6):977-984. Epub 2018 May 25.

Glycogen Storage Disease Program, Department of Pediatrics, University of Connecticut School of Medicine, Farmington, CT, 06030, USA.

Background: Viral mediated gene therapy has progressed after overcoming early failures, and gene therapy has now been approved for several conditions in Europe and the USA. Glycogen storage disease (GSD) type Ia, caused by a deficiency of glucose-6-phosphatase-α, has been viewed as an outstanding candidate for gene therapy. This follow-up report describes the long-term outcome for the naturally occurring GSD-Ia dogs treated with rAAV-GPE-hG6PC-mediated gene therapy. Read More

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http://link.springer.com/10.1007/s10545-018-0199-7
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http://dx.doi.org/10.1007/s10545-018-0199-7DOI Listing
November 2018
20 Reads

Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia.

J Inherit Metab Dis 2018 May 8. Epub 2018 May 8.

Section on Cellular Differentiation, Division of Translational Medicine, 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 Ia (GSD-Ia) deficient in glucose-6-phosphatase-α (G6Pase-α) is a metabolic disorder characterized by impaired glucose homeostasis and a long-term complication of hepatocellular adenoma/carcinoma (HCA/HCC). Mitochondrial dysfunction has been implicated in GSD-Ia but the underlying mechanism and its contribution to HCA/HCC development remain unclear. We have shown that hepatic G6Pase-α deficiency leads to downregulation of sirtuin 1 (SIRT1) signaling that underlies defective hepatic autophagy in GSD-Ia. Read More

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http://link.springer.com/10.1007/s10545-018-0192-1
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http://dx.doi.org/10.1007/s10545-018-0192-1DOI Listing
May 2018
21 Reads
3.370 Impact Factor

[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
10 Reads

Recent development and gene therapy for glycogen storage disease type Ia.

Liver Res 2017 Sep;1(3):174-180

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

Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC) that is expressed primarily in the liver, kidney, and intestine. G6Pase-α catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose and phosphate in the terminal step of gluconeogenesis and glycogenolysis, and is a key enzyme for endogenous glucose production. The active site of G6Pase-α is inside the endoplasmic reticulum (ER) lumen. Read More

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http://dx.doi.org/10.1016/j.livres.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5859325PMC
September 2017
5 Reads

Gastric Mucormycosis in a Liver and Kidney Transplant Recipient: Case Report and Concise Review of Literature.

Transplant Proc 2018 Apr 22;50(3):905-909. Epub 2018 Mar 22.

Nephrology Dialysis and Transplant Unit, University of Modena and Reggio Emilia, AOU Policlinico of Modena, Modena, Italy.

Mucormycosis is an uncommonly encountered fungal infection in solid organ transplantation. The infection is severe and often results in a fatal outcome. The most common presentations are rhino-sino-orbital and pulmonary disease. Read More

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http://dx.doi.org/10.1016/j.transproceed.2017.11.036DOI Listing
April 2018
5 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

Effect of VSL#3 Probiotic in a Patient with Glycogen Storage Disease Type Ia and Irritable Bowel Disease-like Disease.

Probiotics Antimicrob Proteins 2018 Feb 13. Epub 2018 Feb 13.

Efficiency, Quality and Costs in Health Services Research Group (EFISALUD), Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain.

Gut Inflammatory bowel disease (IBD) is a group of chronic gastrointestinal disorders characterised by relapsing and remitting inflammation of the gastrointestinal tract. The two most common types of IBDs are ulcerative colitis and Crohn's disease. Patients with glycogen storage disease (GSD) type Ia present with gastrointestinal symptoms such as recurrent abdominal pain, bloating and changes in stool form or frequency, which is clinically difficult to distinguish from IBD. Read More

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http://dx.doi.org/10.1007/s12602-017-9372-9DOI Listing
February 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
11 Reads

G6PC mRNA Therapy Positively Regulates Fasting Blood Glucose and Decreases Liver Abnormalities in a Mouse Model of Glycogen Storage Disease 1a.

Mol Ther 2018 03 31;26(3):814-821. Epub 2018 Jan 31.

Discovery Research, Alexion Pharmaceuticals, Inc., 75 Sidney Street, Cambridge, MA 02139, USA. Electronic address:

Glycogen storage disease type Ia (GSD1a) is an inherited metabolic disorder caused by the deficiency of glucose-6-phosphatase (G6Pase). GSD1a is associated with life-threatening hypoglycemia and long-term liver and renal complications. We examined the efficacy of mRNA-encoding human G6Pase in a liver-specific G6Pase mouse model (L-G6PC) that exhibits the same hepatic biomarkers associated with GSD1a patients, such as fasting hypoglycemia, and elevated levels of hepatic glucose-6-phosphate (G6P), glycogen, and triglycerides. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15250016183001
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http://dx.doi.org/10.1016/j.ymthe.2018.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910675PMC
March 2018
19 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

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

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
35 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
51 Reads

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.

BMC Ophthalmol 2017 Jun 28;17(1):107. Epub 2017 Jun 28.

Eye Unit, San Paolo Hospital, University of Milan, Milan, Italy.

Background: We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).

Case Presentation: A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required because of her low levels of serum calcium. Read More

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http://dx.doi.org/10.1186/s12886-017-0499-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490087PMC
June 2017
24 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
30 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
17 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
11 Reads

Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.

J Genet 2017 Mar;96(1):19-23

Liver and Gastrointestinal Disease Research Center, Tabriz University of Medical Sciences, Tabriz 5166/15731, Iran.

Glycogen storage diseases (GSDs) are caused by abnormalities in enzymes that are involved in the regulation of gluconeogenesis and glycogenolysis. GSD I, an autosomal recessive metabolic disorder, is the most common GSD and has four subtypes. Here, we examined GSD Ia caused by the defective glucose-6-phosphatase catalytic (G6PC) gene. Read More

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March 2017
9 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
27 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
17 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
7 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
51 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

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
15 Reads

Minimal hepatic glucose-6-phosphatase-α activity required to sustain survival and prevent hepatocellular adenoma formation in murine glycogen storage disease type Ia.

Mol Genet Metab Rep 2015 Jun 13;3:28-32. Epub 2015 Mar 13.

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, United States.

Glycogen storage disease type Ia (GSD-Ia), characterized by impaired glucose homeostasis and chronic risk of hepatocellular adenoma (HCA), is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC) activity. In a previous 70-90 week-study, we showed that a recombinant adeno-associated virus (rAAV) vector-mediated gene transfer that restores more than 3% of wild-type hepatic G6Pase-α activity in G6pc (-/-) mice corrects hepatic G6Pase-α deficiency with no evidence of HCA. We now examine the minimal hepatic G6Pase-α activity required to confer therapeutic efficacy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22144269150001
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http://dx.doi.org/10.1016/j.ymgmr.2015.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750588PMC
June 2015
22 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
31 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

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
20 Reads

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
7 Reads

Mice expressing reduced levels of hepatic glucose-6-phosphatase-α activity do not develop age-related insulin resistance or obesity.

Hum Mol Genet 2015 Sep 18;24(18):5115-25. Epub 2015 Jun 18.

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

Glycogen storage disease type-Ia (GSD-Ia) is caused by a lack of glucose-6-phosphatase-α (G6Pase-α or G6PC) activity. We have shown that gene therapy mediated by a recombinant adeno-associated virus (rAAV) vector expressing human G6Pase-α normalizes blood glucose homeostasis in the global G6pc knockout (G6pc(-/-)) mice for 70-90 weeks. The treated G6pc(-/-) mice expressing 3-63% of normal hepatic G6Pase-α activity (AAV mice) produce endogenous hepatic glucose levels 61-68% of wild-type littermates, have a leaner phenotype and exhibit fasting blood insulin levels more typical of young adult mice. Read More

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http://hmg.oxfordjournals.org/content/early/2015/06/17/hmg.d
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http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddv
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http://dx.doi.org/10.1093/hmg/ddv230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550813PMC
September 2015
23 Reads

Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.

J Inherit Metab Dis 2015 May 30;38(3):537-43. Epub 2015 Jan 30.

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

Hepatic glycogen storage diseases (GSD) underscore the intimate relationship between carbohydrate and lipid metabolism. The hyperlipidemias in hepatic GSD reflect perturbed intracellular metabolism, providing biomarkers in blood to monitor dietary management. In different types of GSD, hyperlipidemias are of a different origin. Read More

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http://dx.doi.org/10.1007/s10545-015-9811-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432100PMC
May 2015
8 Reads

Hepatic lentiviral gene transfer prevents the long-term onset of hepatic tumours of glycogen storage disease type 1a in mice.

Hum Mol Genet 2015 Apr 5;24(8):2287-96. Epub 2015 Jan 5.

Institut National de la Santé et de la Recherche Médicale, U855, Lyon F-69008, France, Université de Lyon, Lyon, F-69008, France, Université Lyon1, Villeurbanne, F-69622, France,

Glycogen storage disease type 1a (GSD1a) is a rare disease due to the deficiency in the glucose-6-phosphatase (G6Pase) catalytic subunit (encoded by G6pc), which is essential for endogenous glucose production. Despite strict diet control to maintain blood glucose, patients with GSD1a develop hepatomegaly, steatosis and then hepatocellular adenomas (HCA), which can undergo malignant transformation. Recently, gene therapy has attracted attention as a potential treatment for GSD1a. Read More

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http://dx.doi.org/10.1093/hmg/ddu746DOI Listing
April 2015
53 Reads

Gastric cancer following a liver transplantation for glycogen storage disease type Ia (von Gierke disease): A case report.

Oncol Lett 2014 Dec 9;8(6):2803-2805. Epub 2014 Oct 9.

Department of General Surgery, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu 210006, P.R. China.

Glycogen storage disease type Ia (GSD-Ia; also termed von Gierke disease) is an inherited metabolic disorder resulting from a glucose-6-phosphatase deficiency. Liver transplantation is considered to be the most effective treatment for GSD-Ia patients. In the present study, the case of a patient with GSD-Ia who received a liver transplantation at 17 years of age is presented. Read More

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http://dx.doi.org/10.3892/ol.2014.2599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214470PMC
December 2014
12 Reads

Inflammatory Bowel Disease in Glycogen Storage Disease Type Ia.

J Pediatr Gastroenterol Nutr 2017 02;64(2):e52-e54

*Division of Pediatric Gastroenterology, Department of Pediatrics †Glycogen Storage Disease Program, Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida College of Medicine, Gainesville ‡Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://pdfs.journals.lww.com/jpgn/9000/00000/Inflammatory_Bo
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MPG.0000000000000592DOI Listing
February 2017
8 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
30 Reads

Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.

Eur J Pediatr 2015 Jan 1;174(1):59-63. Epub 2014 Jul 1.

Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing, China,

Unlabelled: Glycogen storage disease type Ia (GSDIa) is an autosomal recessively inherited disease characterized by poor tolerance to fasting, growth retardation, and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Germline mutations of glucose-6-phosphatase (G6PC) gene have been identified as a cause of GSDIa. In this study, we performed mutation analysis in five Chinese GSDIa patients belonging to five unrelated families by direct DNA sequencing. Read More

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http://dx.doi.org/10.1007/s00431-014-2354-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289013PMC
January 2015
46 Reads

Case of cholangiocellular carcinoma in a patient with glycogen storage disease type Ia.

Hepatol Res 2015 Apr 18;45(4):494-9. Epub 2014 Jul 18.

Department of Internal Medicine, Aichi Medical University, Nagakute, Japan.

Glycogen storage disease (GSD) type Ia is caused by a deficiency in glucose-6-phosphatase. Long-term complications, including renal disease, gout, osteoporosis and pulmonary hypertension, develop in patients with GSD type Ia. In the second or third decade, 22-75% of GSD type Ia patients develop hepatocellular adenoma (HCA). Read More

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http://dx.doi.org/10.1111/hepr.12366DOI Listing
April 2015
12 Reads

[Multiple large hepatocellular adenomas in a patient with glycogen storage disease type Ia].

Nihon Shokakibyo Gakkai Zasshi 2014 Apr;111(4):787-96

Department of Surgery, Institute of Gastroenterology, Tokyo Women's Medical University.

A man diagnosed at birth with glycogen storage disease type Ia was found to have multiple hepatocellular adenomas at 15 years of age. At 18 years of age, he underwent transarterial tumor embolization in segments 4 and 5. At 27 years of age, the tumor in segment 4 had increased in size on follow-up computed tomography, and he was referred to our hospital. Read More

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April 2014
11 Reads