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    1360 results match your criteria Glucose-6-Phosphatase Deficiency

    1 OF 28

    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

    Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.
    JIMD Rep 2017 Feb 4. Epub 2017 Feb 4.
    Division of Endocrinology, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada.
    Background: Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles. We describe hypogonadotropic hypogonadism as a novel complication in glycogen storage disease (GSD) type 1. Read More

    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

    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

    Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report.
    Mol Clin Oncol 2016 Nov 21;5(5):599-603. Epub 2016 Sep 21.
    Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Fukuoka 812-8582, Japan.
    Malignant transformation of hepatocellular adenoma (HA) is relatively rare and has been reported to be associated with dysregulation of the β-catenin pathway. The presence of bone marrow metaplasia in HA is an uncommon histological characteristic. The current report presents the case of a 46-year-old woman with glycogen storage disease type I (von Gierke's disease) who underwent resection of hepatocellular carcinoma (HCC) arising in a HA with associated bone marrow metaplasia producing three series of hematopoietic cells. Read More

    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

    Progressive development of renal cysts in glycogen storage disease type I.
    Hum Mol Genet 2016 Sep 19;25(17):3784-3797. Epub 2016 Jul 19.
    Institut National de la Santé et de la Recherche Médicale, U1213, Lyon, France
    Glycogen storage disease type I (GSDI) is a rare metabolic disease due to glucose-6 phosphatase deficiency, characterized by fasting hypoglycemia. Patients also develop chronic kidney disease whose mechanisms are poorly understood. To decipher the process, we generated mice with a kidney-specific knockout of glucose-6 phosphatase (K. Read More

    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

    Alopecia Areata After Vaccination: Recurrence with Rechallenge.
    Pediatr Dermatol 2016 May 13;33(3):e218-9. Epub 2016 Apr 13.
    Department of Dermatology, Cathay General Hospital, Taipei, Taiwan.
    Alopecia areata (AA) is the most common form of hair loss in children. We report the case of a child who had two episodes of AA after two different vaccines with complete hair regrowth between the episodes. This case supports the concept that vaccination might be a trigger for the development of AA in genetically predisposed children. Read More

    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

    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

    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

    [Hepatoblastoma, Etiology, Case Reports].
    Klin Onkol 2016 ;29 Suppl 1:S78-82
    Hepatoblastoma is an uncommon malignant neoplasm in general, yet, it is the most common liver malignancy in children with the incidence about one per milion children. This type of liver tumor usually occurs before the age of three years. The etiology of hepatoblastoma remains unknown. Read More

    Lens opacities in glycogenoses type I and III.
    Can J Ophthalmol 2015 Dec;50(6):480-4
    Eye Clinic, San Paolo Hospital, University of Milan, Milan.
    Objective: The glycogen storage diseases (GSD) or glycogenoses comprise several inherited diseases caused by abnormalities of the enzymes that regulate the synthesis or degradation of glycogen. This report presents lens opacities not previously described in patients with type I or III GSD.

    Participants: Eleven patients with type I and III GSD. Read More

    G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.
    J Pediatr Hematol Oncol 2015 Nov;37(8):616-22
    *Division of Pediatric Allergy and Immunology †Department of Pathology, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey ‡CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences §Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
    Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency was recently defined as a new severe congenital neutropenia subgroup remarkable with congenital heart defects, urogenital malformations, endocrine abnormalities, and prominent superficial veins. Here, we report 3 patients with G6PC3 deficiency presenting with recurrent diarrhea, failure to thrive, and sinopulmonary infections leading to bronchiectasis. In patient I and II, a combined immune deficiency was suspected due to early-onset disease with lymphopenia, neutropenia, and thrombocytopenia, along with variable reductions in lymphocyte subpopulations and favorable response to intravenous γ-globulin therapy. Read More

    Induction of autophagy improves hepatic lipid metabolism in glucose-6-phosphatase deficiency.
    J Hepatol 2016 Feb 20;64(2):370-9. Epub 2015 Oct 20.
    Cardiovascular and Metabolic Disorders Program, Duke-NUS Graduate Medical School Singapore, Singapore; Sarah W. Stedman Nutrition and Metabolism Center, Departments of Medicine and Pharmacology and Cancer Biology, Duke University Medical Center, Durham, NC, USA. Electronic address:
    Background & Aims: Glucose-6-phosphatase (G6Pase α, G6PC) deficiency, also known as von Gierke's disease or GSDIa, is the most common glycogen storage disorder. It is characterized by a decreased ability of the liver to convert glucose-6-phosphate (G6P) to glucose leading to glycogen and lipid over-accumulation progressing to liver failure and/or hepatomas and carcinomas. Autophagy of intracellular lipid stores (lipophagy) has been shown to stimulate fatty acid β-oxidation in hepatic cells. Read More

    The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.
    JIMD Rep 2016 9;27:85-91. Epub 2015 Oct 9.
    Westmead Hospital, Sydney, Australia.
    Background: There are few centres which specialise in the care of adults with inborn errors of metabolism (IEM). To anticipate facilities and staffing needed at these centres, it is of interest to know the distribution of the different disorders.

    Methods: A survey was distributed through the list-serve of the SSIEM Adult Metabolic Physicians group asking clinicians for number of patients with confirmed diagnoses, types of diagnoses and age at diagnosis. Read More

    Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III.
    Ultrasound Med Biol 2016 Jan 3;42(1):133-42. Epub 2015 Oct 3.
    Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands. Electronic address:
    In glycogen storage diseases (GSDs), improved longevity has resulted in the need for neuromuscular surveillance. In 12 children and 14 adults with the "hepatic" (GSD-I) and "myopathic" (GSD-III) phenotypes, we cross-sectionally assessed muscle ultrasound density (MUD) and muscle force. Children with both "hepatic" and "myopathic" GSD phenotypes had elevated MUD values (MUD Z-scores: GSD-I > 2. Read More

    Hydrothermally modified slow release corn starch: a potential new therapeutic option for treating hypoglycemia in autoimmune hypoglycemia (Hirata's disease).
    Eur J Clin Nutr 2015 Dec 16;69(12):1369-70. Epub 2015 Sep 16.
    Department of Medicine II, Ludwig-Maximilians-Universität München, Munich, Germany.
    We report the successful treatment of autoimmune hypoglycemia in an 82-year-old non-diabetic Caucasian male with hydrothermally modified slow release corn starch, a product which is used in other conditions associated with hypoglycemia, most typically glycogen storage disease type I. An 82-year-old-Caucasian male presented with recurrent spontaneous hypoglycemia as low as 30 mg/dl following in-patient treatment for community acquired pneumonia. During a fasting-test, symptomatic hypoglycemia occurred. Read More

    Reappraisal of the Role of Portacaval Shunting in the Growth of Patients With Glycogen Storage Disease Type I in the Era of Liver Transplantation.
    Transplantation 2016 Mar;100(3):585-92
    1 Department of Surgery, Seoul National University Bundang Hospital, Seoul, Korea. 2 Department of Surgery, Seoul National University College of Medicine, Seoul, Korea. 3 Department of Pediatrics and Adolescent Medicine, Seoul National University College of Medicine, Seoul, Korea.
    Background: Instead of dietary modification, surgical management is considered for correcting growth retardation, poor metabolic control, and hepatocellular adenoma (HCA) in glycogen storage disease (GSD) type I.

    Methods: The records of 55 GSD type I patients were retrospectively reviewed. Thirty-two patients underwent only dietary management (group D) and 23 underwent surgical management (group S). Read More

    Frostbite: A Novel Presentation of Glucose-6-Phosphate Dehydrogenase Deficiency?
    J Spec Oper Med 2015 ;15(3):1-3
    Acute hemolytic anemia (AHA) due to glucose 6-phosphate dehydrogenase (G6PD) deficiency has rarely been recognized as a contributor to the development of frostbite. We discuss a case of frostbite in a 32-year-old male Marine with G6PD deficiency during military training on Mount McKinley in Alaska, which eventually led to a permanent disability. In this report, the pathophysiology of G6PD deficiency, the effects of hemolytic anemia, and factors that contribute to frostbite will be discussed, as well as the clinical findings, treatment course, and the outcome of this case. Read More

    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

    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

    Preclinical Development of New Therapy for Glycogen Storage Diseases.
    Curr Gene Ther 2015 ;15(4):338-47
    Box 103856, Duke University Medical Center, Durham, NC 27710.
    Glycogen storage disease (GSD) consists of more than 10 discrete conditions for which the biochemical and genetic bases have been determined, and new therapies have been under development for several of these conditions. Gene therapy research has generated proof-of-concept for GSD types I (von Gierke disease) and II (Pompe disease). Key features of these gene therapy strategies include the choice of vector and regulatory cassette, and recently adeno-associated virus (AAV) vectors containing tissue-specific promoters have achieved a high degree of efficacy. Read More

    Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study.
    J Inherit Metab Dis 2015 Nov 25;38(6):1093-8. Epub 2015 Jun 25.
    Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.
    Background: Traditional approaches for nighttime glycemic control in glycogen storage disease type I (GSDI) include continuous tube feeding, or ingestion of uncooked corn starch (CS) at bedtime. A modified corn starch (MCS) has been shown to prolong euglycemia in some patients. The aim of this study was to evaluate whether stable nighttime glucose control can be achieved with other types of slowly digested carbohydrates in adult GSDI patients. Read More

    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

    Hepatic glycogen storage disorders: what have we learned in recent years?
    Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):415-21
    aDivision of Metabolism and Children's Research Center, University Children's Hospital bDivision of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich cradiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland.
    Purpose Of Review: Glycogen storage disorders (GSDs) are inborn errors of metabolism with abnormal storage or utilization of glycogen. The present review focuses on recent advances in hepatic GSD types I, III and VI/IX, with emphasis on clinical aspects and treatment.

    Recent Findings: Evidence accumulates that poor metabolic control is a risk factor for the development of long-term complications, such as liver adenomas, low bone density/osteoporosis, and kidney disease in GSD I. Read More

    [Renal involvement in glycogen storage disease type 1: Practical issues].
    Nephrol Ther 2015 Jul 6;11(4):240-5. Epub 2015 May 6.
    Service de pédiatrie et maladies métaboliques héréditaires, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie.
    Aim: To investigate risk factors of renal complications in glycogen storage disease type I, in order to identify practical implications for renal preservation.

    Methods: A retrospective study of 38 patients with glycogen storage disease type I.

    Results: The patients studied were 8. Read More

    Regulation of liver metabolism by the endosomal GTPase Rab5.
    Cell Rep 2015 May 30;11(6):884-92. Epub 2015 Apr 30.
    Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany. Electronic address:
    The liver maintains glucose and lipid homeostasis by adapting its metabolic activity to the energy needs of the organism. Communication between hepatocytes and extracellular environment via endocytosis is key to such homeostasis. Here, we addressed the question of whether endosomes are required for gluconeogenic gene expression. Read More

    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

    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

    Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study.
    J Pediatr 2015 Apr 29;166(4):1079-82. Epub 2015 Jan 29.
    Department of Medical Sciences Translational, Sezione di Pediatria, Università Federico II, Naples, Italy.
    Angiotensin converting enzyme (ACE)-inhibitors decrease glomerular hyperfiltration but not microalbuminuria and proteinuria in glycogen storage disease type I. In the current study, we demonstrated that severe hyperlipidemia is associated with ACE-inhibitor ineffectiveness. We underline the importance of adequate metabolic control in glycogen storage disease type I. Read More

    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

    [Mitochondrial dysfunction in children with hepatic forms of glycogen storage disease].
    Vestn Ross Akad Med Nauk 2014 (7-8):78-84
    Aim: The purpose of the study was to assess mitochondrial dysfunction severity in patients with hepatic forms of glycogen storage disease (GSD).

    Patients And Methods: We examined 53 children with GSD in the dynamics. Distribution of children by disease types was: 1st group--children with GSD type I, 2nd group--children with GSD type III, 3rd group--children with GSD type VI and IX; comparison group consisted of 34 healthy children. Read More

    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

    Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.
    Mol Genet Metab 2015 Jan 26;114(1):41-5. Epub 2014 Nov 26.
    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. Electronic address:
    Glucose-6-phosphatase-β (G6Pase-β or G6PC3) deficiency is characterized by neutropenia and dysfunction in both neutrophils and macrophages. G6Pase-β is an enzyme embedded in the endoplasmic reticulum membrane that catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose and phosphate. To date, 33 separate G6PC3 mutations have been identified in G6Pase-β-deficient patients but only the p. Read More

    Performance of BinaxNOW G6PD deficiency point-of-care diagnostic in P. vivax-infected subjects.
    Am J Trop Med Hyg 2015 Jan 10;92(1):22-7. Epub 2014 Nov 10.
    Epidemiology and Population Health Research Group (GESP), School of Public Health, Universidad del Valle, Cali, Colombia; Clinical Research and Development Fellowship, World Health Organization/Special Program for Research and Training in Tropical Diseases (WHO/TDR) at GlaxoSmithKline (GSK), Uxbridge, Middlesex, United Kingdom; GlaxoSmithKline Research and Development, Uxbridge, Middlesex, United Kingdom; Department of Medicine, Sri Ramchandra Medical College and Research Institute, Porur, Chennai, Tamil Nadu, India; Shoklo Malaria Research Unit, Mae Sot, Thailand; MV Hospital and Research Centre, Lucknow, Uttar Pradesh, India; Institute of Specific Prophylaxis and Tropical Medicine, Medical University of Vienna, Vienna, Austria; Sardar Patel Medical College, Bikaner, Rajasthan, India; Department of Medicine, Rajasthan University of Health Sciences Medical College, Jaipur, India; Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand; Fundação de Medicina Tropical Doutor Heitor Vieira Dourado, Manaus, Amazonas, Brazil; Instituto de Medicina Tropical, Alexander von Humboldt, Universidad Peruana Cayetano Heredia, Lima, Peru; Mae Sot Hospital, Mae Sot, Tak Province, Thailand; Medicines for Malaria Venture, Geneva, Switzerland
    Accurate diagnosis of glucose-6-phosphate dehydrogenase (G6PD) deficiency is required to avoid the risk of acute hemolysis associated with 8-aminoquinoline treatment. The performance of the BinaxNOW G6PD test compared with the quantitative spectrophotometric analysis of G6PD activity was assessed in 356 Plasmodium vivax-infected subjects in Brazil, Peru, Thailand, and India. In the quantitative assay, the median G6PD activity was 8. Read More

    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

    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

    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

    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

    In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases.
    J Inherit Metab Dis 2015 May 16;38(3):529-36. Epub 2014 Sep 16.
    Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
    Uncooked cornstarch (UCCS) is a widely used treatment strategy for patients with hepatic glycogen storage disease (GSD). It has been observed that GSD-patients display different metabolic responses to different cornstarches. The objective was to characterize starch fractions and analyze the digestion of different starches in a dynamic gastrointestinal in vitro model. Read More

    Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease.
    J Inherit Metab Dis 2015 May 28;38(3):521-7. Epub 2014 Aug 28.
    Institut National de la Santé et de la Recherche Médicale, U855, Lyon, 69008, France,
    Patients with glycogen storage diseases type 1 (GSD1) suffer from life-threatening hypoglycaemia, when left untreated. Despite an intensive dietary treatment, patients develop severe complications, such as liver tumors and renal failure, with aging. Until now, the animal models available for studying the GSD1 did not survive after weaning. Read More

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