228 results match your criteria Glycogen Storage Disease Type Ib


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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http://dx.doi.org/10.3389/fchem.2018.00122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5913288PMC
April 2018
3 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
12 Reads

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

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

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

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

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

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
4 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
15 Reads

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

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

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

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

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http://dx.doi.org/10.1007/8904_2017_67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226394PMC
November 2017
8 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
12 Reads

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

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

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

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

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

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

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

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

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

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http://dx.doi.org/10.1007/s10545-017-0054-2DOI Listing
September 2017
11 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
20 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
17 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
30 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
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
15 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
10 Reads

FDG PET/CT in Type I Glycogen Storage Disease.

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

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

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

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

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

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

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

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

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_488
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http://link.springer.com/10.1007/8904_2015_488
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http://dx.doi.org/10.1007/8904_2015_488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864714PMC
May 2016
22 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
26 Reads

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

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

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

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

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

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_461
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http://link.springer.com/10.1007/8904_2015_461
Publisher Site
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059207PMC
http://dx.doi.org/10.1007/8904_2015_461DOI Listing
June 2015
27 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
9 Reads

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Genet Med 2014 Nov;16(11):e1

Purpose: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal transport proteins for glucose 6-phosphate (GSD Ib), resulting in excessive accumulation of glycogen and fat in the liver, kidney, and intestinal mucosa. Patients with GSD I have a wide spectrum of clinical manifestations, including hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, and growth retardation. Read More

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http://dx.doi.org/10.1038/gim.2014.128DOI Listing
November 2014
38 Reads

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

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

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

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

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

Neutrophil energetics and oxygen sensing.

Blood 2014 May;123(18):2753-4

UNIVERSITY OF SHEFFIELD.

In this issue of Blood, Jun et al, through the study of neutrophils deficient in the glucose-6-phosphate transporter, describe a novel role for the peroxisome proliferator-activated receptor-γ (PPARG) pathway in the regulation of key neutrophil functions and link this to concomitant hypoxia-inducible factor (HIF) 1α stabilization. Read More

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http://dx.doi.org/10.1182/blood-2014-03-560409DOI Listing
May 2014
4 Reads

[Cochlear implantation in immunocompromised patients].

Vestn Otorinolaringol 2014 (2):93-4

This paper reports a clinical case that gives evidence of the possibility of cochlear implantation after liver transplantation. Patient K. aged 3 years 10 months was admitted to the Russian Research and Practical Centre of Audiology and Hearing Rehabilitation with the diagnosis of type IB glycogenosis after maternal liver transplantation associated with chronic neutropenia, chronic cutaneous and mucosal infection, partial symptomatic partial epilepsy, retarded psycho-motor development, and complaints of the absence of auditory response. Read More

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August 2014
8 Reads

The SLC37 family of sugar-phosphate/phosphate exchangers.

Curr Top Membr 2014 ;73:357-82

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, Maryland, USA; Foundation Fighting Blindness, Columbia, Maryland, USA.

The SLC37 family members are endoplasmic reticulum (ER)-associated sugar-phosphate/phosphate (P(i)) exchangers. Three of the four members, SLC37A1, SLC37A2, and SLC37A4, function as Pi-linked glucose-6-phosphate (G6P) antiporters catalyzing G6P:P(i) and P(i):P(i) exchanges. The activity of SLC37A3 is unknown. Read More

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https://linkinghub.elsevier.com/retrieve/pii/B97801280022300
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http://dx.doi.org/10.1016/B978-0-12-800223-0.00010-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180117PMC
November 2014
12 Reads

Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.

Ital J Pediatr 2014 Mar 19;40(1):30. Epub 2014 Mar 19.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via S, Pansini 5, 80131 Naples, Italy.

Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypoglycemia, and dyslipidemia. Patients affected by GSD1b also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections. Read More

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http://dx.doi.org/10.1186/1824-7288-40-30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974180PMC
March 2014
10 Reads

Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patient.

Genes Cells 2013 Dec 28;18(12):1053-69. Epub 2013 Oct 28.

Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, 3-1 Tanabe-dori, Mizuho-ku, Nagoya, 467-8603, Japan.

Glycogen storage disease type Ib (GSDIb) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT), which leads to neutrophil dysfunction. However, the underlying causes of these dysfunctions and their relationship with glucose homeostasis are unclear. Induced pluripotent stem cells (iPSCs) hold a great promise for advances in developmental biology, cell-based therapy and modeling of human disease. Read More

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http://dx.doi.org/10.1111/gtc.12101DOI Listing
December 2013
9 Reads

Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.

Blood 2014 May 24;123(18):2843-53. Epub 2014 Feb 24.

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;

Glycogen storage disease type Ib (GSD-Ib) is an autosomal-recessive syndrome characterized by neutropenia and impaired glucose homeostasis resulting from a deficiency in the glucose-6-phosphate (G6P) transporter (G6PT). The underlying cause of GSD-Ib neutropenia is an enhanced neutrophil apoptosis, but patients also manifest neutrophil dysfunction of unknown etiology. Previously, we showed G6PT interacts with the enzyme glucose-6-phosphatase-β (G6Pase-β) to regulate the availability of G6P/glucose in neutrophils. Read More

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2013-05-50
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http://dx.doi.org/10.1182/blood-2013-05-502435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007611PMC
May 2014
19 Reads

Pregnancy in women with glycogen storage disease Ia and Ib.

J Perinat Neonatal Nurs 2014 Jan-Mar;28(1):26-31

University of Florida, Gainesville, Florida (Ms Ferrecchia); Bard College at Simon's Rock, Great Barrington, Massachusetts (Ms Guenette); UFHealth, Gainesville, Florida (Ms Potocik); and University of Florida College of Medicine, Gainesville (Dr Weinstein).

Over the past 9 decades since glycogen storage disease (GSD) was described, an almost universally fatal disease has become one where women are living well into adulthood and choosing to bear children. This inborn error of metabolism associated with the creation and utilization of glycogen, when untreated, manifests with unrelenting hypoglycemia. The initiation of continuous feeds has improved outcomes, and later in 1982, the administration of intermittent doses of cornstarch in water provided a continuous supply of exogenous glucose. Read More

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/JPN.0000000000000017DOI Listing
April 2015
13 Reads

Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.

Horm Res Paediatr 2014 21;81(1):55-62. Epub 2013 Dec 21.

Dipartimenti di Pediatria, Università Federico II, Napoli, Italy.

Background: Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1.

Objectives: The aim of this study was to investigate the effects of poor metabolic control and/or use of GSD1-specific treatments on bone mineral density (BMD) and metabolism in GSD1 patients. Read More

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http://dx.doi.org/10.1159/000351022DOI Listing
January 2015
2 Reads

Glycogen storage disease type 1b: an early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient.

Genet Couns 2014 ;25(4):389-94

Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders that include types Ia and Ib. GSD-Ib is caused by a deficiency in the glucose-6-phosphate transporter (G6PT) caused by a mutation in the SLC37A4 gene coding for G6PT. Glycogen storage disease is characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver and chronic neutropenia. Read More

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April 2015
6 Reads

Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study.

JIMD Rep 2014 21;14:47-53. Epub 2013 Dec 21.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy,

Background: Glycogen storage disease type I (GSD I) is a chronic metabolic disease that requires a lifelong strict dietetic treatment to avoid hypoglycemia and can lead to severe complications during adult age. Impaired quality of life (QoL) has been reported in affected children, but this aspect has not been previously investigated in adults.

Objective: To assess QoL in adult patients with GSD I. Read More

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http://dx.doi.org/10.1007/8904_2013_283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213326PMC
October 2014
12 Reads

Continuous glucose monitoring in children with glycogen storage disease type I.

Eur J Clin Nutr 2014 Jan 23;68(1):101-5. Epub 2013 Oct 23.

Department of Pediatric Metabolism, Gazi University Hospital, Ankara, Turkey.

Background/objectives: Glycogen storage disease type I (GSD I) is an autosomal recessive metabolic disorder caused by defects in the glucose-6-phosphatase complex. Deficient activity in the glucose-6-phosphatase-α catalytic unit characterizes GSD Ia and defects in the glucose-6-phosphate transporter protein characterize GSD Ib. Type Ia involves the liver, kidney and intestine (and Ib also leukocytes), and the clinical manifestations are hepatomegaly, failure to thrive, severe fasting hypoglycemia within 3-4 h after a meal, hyperlactatemia, hyperuricemia and hyperlipidemia. Read More

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http://link.springer.com/content/pdf/10.1023/A:1013996325720
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http://www.nature.com/doifinder/10.1038/ejcn.2013.186
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http://dx.doi.org/10.1038/ejcn.2013.186DOI Listing
January 2014
5 Reads

[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].

Zhongguo Dang Dai Er Ke Za Zhi 2013 Aug;15(8):661-5

Department of Endocrinology and Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou 510623, China.

Objective: Glycogen storage disease type Ib (GSDIb) is caused by a deficiency of glucose-6-phosphate translocase (G6PT) activity due to SLC37A4 gene mutations. Most GSDIb patients have recurrent infections and inflammatory bowel disease, with poor prognosis. Detection of SLC37A4 gene mutations is of great significance for the diagnosis, subtyping and outcome prediction of GSD patients. Read More

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August 2013
44 Reads

The SLC37 family of phosphate-linked sugar phosphate antiporters.

Mol Aspects Med 2013 Apr-Jun;34(2-3):601-11

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.

The SLC37 family consists of four sugar-phosphate exchangers, A1, A2, A3, and A4, which are anchored in the endoplasmic reticulum (ER) membrane. The best characterized family member is SLC37A4, better known as the glucose-6-phosphate (G6P) transporter (G6PT). SLC37A1, SLC37A2, and G6PT function as phosphate (Pi)-linked G6P antiporters catalyzing G6P:Pi and Pi:Pi exchanges. Read More

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http://dx.doi.org/10.1016/j.mam.2012.05.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3602828PMC
September 2013
17 Reads

Liver cirrhosis in glycogen storage disease Ib.

Mol Genet Metab 2013 Mar 11;108(3):198-200. Epub 2013 Jan 11.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Moorenstr. 5, D-40225 Duesseldorf, Germany.

Glycogen storage disease Ib is an inborn error of carbohydrate metabolism leading to impaired glycogenolysis and gluconeogenesis. Cardinal symptoms include fasting hypoglycemia, lactic acidosis and hepatomegaly as well as neutropenia. We report for the first time on the development of liver cirrhosis in a nine-year-old boy in the course of glycogen storage disease Ib and discuss possible underlying pathomechanisms. Read More

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http://dx.doi.org/10.1016/j.ymgme.2013.01.003DOI Listing
March 2013
4 Reads

Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria.

Cell Transplant 2012 10;21(12):2765-70. Epub 2012 Aug 10.

Université Catholique de Louvain, Cliniques Universitaires St Luc, Service de Gastroentérologie et Hépatologie Pédiatrique, Banque D'hépatocytes, Bruxelles, Belgium.

Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. Read More

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http://dx.doi.org/10.3727/096368912X653255DOI Listing
June 2013
12 Reads

Noncompaction myocardium in association with type Ib glycogen storage disease.

Pathol Res Pract 2012 Oct 31;208(10):620-2. Epub 2012 Jul 31.

Institute of Pathology, University Hospital Heidelberg, Germany.

Noncompaction myocardium is a rare disorder assumed to occur as an arrest of the compaction process during the normal development of the heart. Left ventricular noncompaction has been reported to be associated with a variety of cardiac and extracardiac, especially neuromuscular abnormalities. Moreover, it has been suggested that metabolic alterations could be responsible for the noncompaction. Read More

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http://dx.doi.org/10.1016/j.prp.2012.06.007DOI Listing
October 2012
6 Reads
1.562 Impact Factor