1,442 results match your criteria Glucose-6-Phosphatase Deficiency


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

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

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

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http://dx.doi.org/10.36660/abc.20190037DOI Listing

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

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

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

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

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http://dx.doi.org/10.1186/s13023-020-01377-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7169016PMC

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort.

Mol Genet Metab Rep 2020 Jun 9;23:100581. Epub 2020 Apr 9.

Reference Center for Inherited Metabolic Diseases, Necker Hospital, APHP, Filière G2 M, MetabERN, Paris, France.

Glycogenosis type Ib (GSD1B) causes not only hypoglycemia but also infections and "Crohn's disease like" inflammatory bowel disease (IBD) that can significantly impair patient's quality of life. We retrospectively evaluated infectious and digestive complications in 9 French patients (3 girls, 6 boys) diagnosed at 0.8 years on average, with a mean follow-up of 19. Read More

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

How could hypoglycemia-inducing glycogen storage disease lead to hyperglycemia-induced mucormycosis?

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

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

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

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http://dx.doi.org/10.4322/acr.2020.149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7061730PMC
February 2020

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

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

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

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

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http://dx.doi.org/10.1002/jmd2.12096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052693PMC

Application of nutrient essentiality criteria to dietary carbohydrates.

Nutr Res Rev 2020 Feb 27:1-11. Epub 2020 Feb 27.

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

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

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http://dx.doi.org/10.1017/S0954422420000050DOI Listing
February 2020

Steno-occlusive cerebral arteriopathy in patients with glycogen storage disease type I.

J Neurol Neurosurg Psychiatry 2020 Apr 18;91(4):434-435. Epub 2019 Dec 18.

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

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http://dx.doi.org/10.1136/jnnp-2019-321489DOI Listing

Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study.

Mol Genet Metab Rep 2019 Dec 6;21:100536. Epub 2019 Nov 6.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

Background: Glycogen storage disease type I (GSDI) is caused by deficiency of the enzyme glucose-6-phosphatase or glucose-6-phosphate transporter. Mainstay of treatment is provision of uncooked cornstarch (and/or continuous nocturnal pump feed (CNPF) to maintain normoglycemia). Waxy maize heat modified starch (WMHMS) is another treatment option to maintain normoglycemia overnight. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2019.100536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895741PMC
December 2019

Glucose-6 Phosphate, A Central Hub for Liver Carbohydrate Metabolism.

Metabolites 2019 Nov 20;9(12). Epub 2019 Nov 20.

Institut National de la Santé et de la Recherche Médicale, U1213, F-69008 Lyon, France.

Cells efficiently adjust their metabolism according to the abundance of nutrients and energy. The ability to switch cellular metabolism between anabolic and catabolic processes is critical for cell growth. Glucose-6 phosphate is the first intermediate of glucose metabolism and plays a central role in the energy metabolism of the liver. Read More

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http://dx.doi.org/10.3390/metabo9120282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950410PMC
November 2019

Edgar von Gierke (1877-1945) - Eponym of "von Gierke disease" and double victim of National Socialism.

Pathol Res Pract 2020 Apr 22;216(4):152696. Epub 2019 Oct 22.

Institute for History, Theory and Ethics in Medicine, Medical Faculty RWTH Aachen University, 52074 Aachen, Germany.

As recent studies on the Third Reich have shown, a two-digit number of Jewish pathologists fell victim to National Socialist repression. One of them was Edgar von Gierke. His name is nowadays best known in medicine for discovering the "von Gierke disease" - also classified as "Glycogen storage disease type I" - which he first described in 1929. Read More

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http://dx.doi.org/10.1016/j.prp.2019.152696DOI Listing

Mutation analysis of in a patient with glycogen storage disease-type Ib.

J Int Med Res 2019 Dec 16;47(12):5996-6003. Epub 2019 Oct 16.

Department of Pediatrics, Beijing Jishuitan Hospital, Beijing, China.

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http://dx.doi.org/10.1177/0300060519867819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045669PMC
December 2019
2 Reads

Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib.

BMJ Case Rep 2019 Jul 18;12(7). Epub 2019 Jul 18.

Department of Paediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

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

Challenges of Gene Therapy for the Treatment of Glycogen Storage Diseases Type I and Type III.

Hum Gene Ther 2019 10 27;30(10):1263-1273. Epub 2019 Aug 27.

INTEGRARE, Genethon, Inserm, Université d'Evry, Université Paris-Saclay, Evry, France.

Glycogen storage diseases (GSDs) type I (GSDI) and type III (GSDIII), the most frequent hepatic GSDs, are due to defects in glycogen metabolism, mainly in the liver. In addition to hypoglycemia and liver pathology, renal, myeloid, or muscle complications affect GSDI and GSDIII patients. Currently, patient management is based on dietary treatment preventing severe hypoglycemia and increasing the lifespan of patients. Read More

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http://dx.doi.org/10.1089/hum.2019.102DOI Listing
October 2019
2 Reads

PRE AND POST-OPERATIVE OTORHINOLARYNGOLOGY SURGERY CARE IN PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE 1.

Rev Paul Pediatr 2019 4;37(4):516-519. Epub 2019 Jul 4.

Universidade Estadual de Campinas, São Paulo, SP, Brazil.

Objective: To discuss aspects of pre and post-operative otorhinolaryngology surgery in patients with glycogen storage disease type 1b.

Case Description: Description of three clinical cases with probable glycogen storage disease type 1b who underwent otorhinolaryngology surgery, showing the importance of multidisciplinary interaction to avoid episodes of hypoglycemia.

Comments: Patients with glycogen storage disease type 1b present recurrent infections, including the otorhinolaryngology affections. Read More

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

Acute psychosis in glycogen storage disease: a rare but severe complication.

BMJ Case Rep 2019 Jul 4;12(7). Epub 2019 Jul 4.

Department of Psychiatry, Queen Elizabeth Hospital, Birmingham, UK.

Glycogen storage disease type 1 (GSD-1) is a group of inherited metabolic disorders characterised by the inability to use intracellular glucose stores. It is associated with a high risk of hypoglycaemia, as well as long-term complications including growth retardation, hepatocellular adenomas, renal disease, hypertriglyceridaemia and hyperuricaemia. Treatment involves slow absorption carbohydrates, for example, cornstarch. Read More

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http://dx.doi.org/10.1136/bcr-2017-222307DOI Listing
July 2019
1 Read

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.

Genet Med 2019 12 2;21(12):2686-2694. Epub 2019 Jul 2.

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

Purpose: In glycogen storage disease type III (GSD III), liver aminotransferases tend to normalize with age giving an impression that hepatic manifestations improve with age. However, despite dietary treatment, long-term liver complications emerge. We present a GSD III liver natural history study in children to better understand changes in hepatic parameters with age. Read More

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http://dx.doi.org/10.1038/s41436-019-0561-7DOI Listing
December 2019
11 Reads

Hepatic stress associated with pathologies characterized by disturbed glucose production.

Cell Stress 2019 Jan 28;3(3):86-99. Epub 2019 Jan 28.

Institut National de la Santé et de la Recherche Médicale, U1213, Lyon, F-69008, France.

The liver is an organ with many facets, including a role in energy production and metabolic balance, detoxification and extraordinary capacity of regeneration. Hepatic glucose production plays a crucial role in the maintenance of normal glucose levels in the organism i.e. Read More

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http://dx.doi.org/10.15698/cst2019.03.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551742PMC
January 2019
6 Reads

A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report.

BMC Med Genet 2019 05 20;20(1):85. Epub 2019 May 20.

Department of Infectious Diseases, Southwest Hospital, Army Medical University, Chongqing, 400038, China.

Background: Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, puberty delay and growth retardation, which can be indicated by height, weight, blood glucose and blood lipids.

Case Presentation: Here we present a 16-year-old male patient with GSD Ia complicated with hepatic adenoma and combined with hepatitis B. As a chronic hepatitis B patient, the patient was admitted to hospital in order to further clarify the nature of hepatic space occupancy because of suspicion of hepatocellular carcinoma. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0816-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528214PMC
May 2019
27 Reads

Prominent venous circulation and thick lips in an 8-year-old boy with congenital neutropenia.

Pediatr Dermatol 2019 May;36(3):e69-e70

Dermatology Department, Hospital Universitari Son Espases, Palma de Mallorca, Spain.

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http://dx.doi.org/10.1111/pde.13760DOI Listing

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

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

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

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

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

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

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

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

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

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

Characterization of high- and low-risk hepatocellular adenomas by magnetic resonance imaging in an animal model of glycogen storage disease type 1A.

Dis Model Mech 2019 04 5;12(4). Epub 2019 Apr 5.

Laboratory of Molecular Biology, Istituto Giannina Gaslini, 16147 Genova, Italy

Hepatocellular adenomas (HCAs) are benign tumors, of which the most serious complications are hemorrhage and malignant transformation to hepatocellular carcinoma (HCC). Among the various subtypes of HCA, the β-catenin-activated subtype (bHCA) is associated with greatest risk of malignant transformation. Magnetic resonance imaging (MRI) is an important tool to differentiate benign and malignant hepatic lesions, and preclinical experimental approaches may help to develop a method to identify MRI features associated with bHCA. Read More

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http://dx.doi.org/10.1242/dmm.038026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505483PMC
April 2019
3 Reads

Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a.

Gene 2019 Jun 16;700:7-16. Epub 2019 Mar 16.

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

Background: Glycogen storage disease type-1a is an inherited, autosomal recessive disorder caused by mutations in G6PC1 gene leading to deficiency of glucose-6-phosphatase-α specifically in the liver/kidney/intestine.

Patients And Methods: DNA of six unrelated Indian GSD-1a patients were screened for mutations in the entire coding region of G6PC1 gene followed by direct DNA sequencing and functional was tested using glucose-6-phosphatase assay.

Results: Mutational screening of GSD-1a patients identified five novel mutations, viz. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193028
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http://dx.doi.org/10.1016/j.gene.2019.03.029DOI Listing
June 2019
22 Reads

Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry.

Mol Genet Metab 2019 04 28;126(4):355-361. Epub 2019 Feb 28.

Department 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: Regular carbohydrate intake to avoid hypoglycemia is the mainstay of dietary treatment in glycogen storage disease type I (GSDI). The aim of this study was to evaluate the quality of dietary treatment and glycemic control in a cohort of GSDI patients, in relation to the presence of typical long-term complications.

Methods: Data of 25 patients (22 GSD subtype Ia and 3 GSDIb, median age 20y) from the Swiss hepatic glycogen storage disease registry was analyzed cross-sectionally. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192193003
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http://dx.doi.org/10.1016/j.ymgme.2019.02.008DOI Listing
April 2019
47 Reads

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
37 Reads

Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.

Curr Opin Hematol 2019 01;26(1):16-21

Department of Pediatrics, Glycogen Storage Disease Program, Connecticut Children's Medical Center, Hartford, Connecticut, USA.

Purpose Of Review: Glycogen storage disease Ib (GSD Ib) is characterized by hepatomegaly, hypoglycemia, neutropenia, enterocolitis and recurrent bacterial infections. It is attributable to mutations in G6PT1, the gene for the glucose-6-phosphate transporter responsible for transport of glucose into the endoplasmic reticulum. Neutropenia in GSD Ib is now frequently treated with granulocyte colony-stimulating factor (G-CSF). Read More

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

Hepatobiliary and Pancreatic: Glycogenic hepatopathy in a patient with poorly controlled diabetes mellitus mimics a hepatic neoplasm.

J Gastroenterol Hepatol 2019 Apr 15;34(4):632. Epub 2018 Nov 15.

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

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http://dx.doi.org/10.1111/jgh.14505DOI Listing
April 2019
2 Reads

Response letter.

J Inherit Metab Dis 2018 11;41(6):915

University of Connecticut Health Center, Farmington, Connecticut, USA.

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http://link.springer.com/10.1007/s10545-018-0249-1
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http://dx.doi.org/10.1007/s10545-018-0249-1DOI Listing
November 2018
22 Reads
3.365 Impact Factor

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

Hum Mol Genet 2019 01;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
90 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 11 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501822PMC
November 2018
59 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
65 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 10 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
13 Reads

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

J Inherit Metab Dis 2018 11 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
66 Reads

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

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

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

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

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

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
50 Reads

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

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

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

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

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

View from inside.

Authors:
Jyoti Halai

J Inherit Metab Dis 2018 11;41(6):901-903

, London, England.

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http://dx.doi.org/10.1007/s10545-018-0214-zDOI Listing
November 2018
3 Reads

The role of kidney in the inter-organ coordination of endogenous glucose production during fasting.

Mol Metab 2018 10 18;16:203-212. Epub 2018 Jun 18.

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: The respective contributions to endogenous glucose production (EGP) of the liver, kidney and intestine vary during fasting. We previously reported that the deficiency in either hepatic or intestinal gluconeogenesis modulates the repartition of EGP via glucagon secretion (humoral factor) and gut-brain-liver axis (neural factor), respectively. Considering renal gluconeogenesis reportedly accounted for approximately 50% of EGP during fasting, we examined whether a reduction in renal gluconeogenesis could promote alterations in the repartition of EGP in this situation. Read More

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http://dx.doi.org/10.1016/j.molmet.2018.06.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157617PMC
October 2018
13 Reads

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

J Inherit Metab Dis 2018 11 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
52 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 11 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
46 Reads
3.365 Impact Factor

Learning from claims: hyperbilirubinaemia and kernicterus.

Arch Dis Child Fetal Neonatal Ed 2019 Mar 25;104(2):F202-F204. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580733PMC
March 2019
44 Reads

Hemophagocytic Lymphohystiocytosis Associated With Type Ia Glycogen Storage Disease.

J Pediatr Hematol Oncol 2019 05;41(4):e260-e262

Division of Pediatric Hematology/Oncology.

Background: Hemophagocytic lymphohystiocytosis (HLH) is characterized by fever, splenomegaly, pancytopenia, and elevated levels of triglycerides and ferritin. These signs and symptoms are common to other metabolic diseases.

Observation: A 5-month-old female infant, who presented with fever, respiratory distress, massive hepatomegaly, and bicytopenia, was diagnosed as having HLH and chemotherapy was initiated. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001208DOI Listing
May 2019
10 Reads

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

Authors:
James McCarthy

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

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

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

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

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

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

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

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

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

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

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

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

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

[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
22 Reads

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.

J Inherit Metab Dis 2018 11 29;41(6):929-936. Epub 2018 Mar 29.

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

Background: The purpose of this project was to develop a telemedicine platform that supports home site monitoring and integrates biochemical, physiological, and dietary parameters for individual patients with hepatic glycogen storage disease (GSD).

Methods And Results: The GSD communication platform (GCP) was designed with input from software developers, GSD patients, researchers, and healthcare providers. In phase 1, prototyping and software design of the GCP has occurred. Read More

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http://dx.doi.org/10.1007/s10545-018-0167-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326981PMC
November 2018
31 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
16 Reads
1 Citation
2.300 Impact Factor

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

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

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

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