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    1379 results match your criteria Glucose-6-Phosphatase Deficiency

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    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

    Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
    J Inherit Metab Dis 2018 Feb 12. Epub 2018 Feb 12.
    Department of Translational Medical Science, Section of Pediatrics, Federico II University, Via Sergio Pansini, 5, 80131, Naples, Italy.
    Background: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). GSDIa patients are at higher risk of developing insulin-resistance (IR). Mitochondrial dysfunction has been implicated in the development of IR. Read More

    Flux analysis of inborn errors of metabolism.
    J Inherit Metab Dis 2018 Jan 9. Epub 2018 Jan 9.
    Section of Systems Medicine and Metabolic Signaling, Laboratory of Pediatrics, Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
    Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites through the different metabolic pathways in this new steady state of the reprogrammed metabolism. Read More

    Clinical characteristics and muscle glycogen concentrations in warmblood horses with polysaccharide storage myopathy.
    Am J Vet Res 2017 Nov;78(11):1305-1312
    OBJECTIVE To characterize clinical findings for polysaccharide storage myopathy (PSSM) in warmblood horses with type 1 PSSM (PSSM1; caused by mutation of the glycogen synthase 1 gene) and type 2 PSSM (PSSM2; unknown etiology). SAMPLE Database with 3,615 clinical muscle biopsy submissions. PROCEDURES Reported clinical signs and serum creatine kinase (CK) and aspartate aminotransferase (AST) activities were retrospectively analyzed for horses with PSSM1 (16 warmblood and 430 nonwarmblood), horses with PSSM2 (188 warmblood and 646 nonwarmblood), and warmblood horses without PSSM (278). Read More

    Dietary Therapy for Von Gierke's Disease: A Case Report.
    Cureus 2017 Aug 8;9(8):e1548. Epub 2017 Aug 8.
    Department of Oncology, Jinnah Post Graduate Medical Centre, Karachi, Pakistan.
    Von Gierke's disease, also known as glycogen storage disease (GSD) type 1A, is an autosomal recessive disease in which there is an inability to cleave glycogen to glucose because of a glucose 6 phosphate deficiency resulting in hypoglycemia and lactic acidosis. The patient may present with hepatomegaly and signs and symptoms of hypoglycemia. We diagnosed a case of Von Gierke's disease in a seven-month-old female infant who was admitted for abdominal distension, vomiting, and lethargy for a duration of four months with characteristic rounded doll's face, fatty cheeks, protuberant abdomen, and massive hepatomegaly. Read More

    Patients with glycogen storage diseases undergoing anesthesia: a case series.
    BMC Anesthesiol 2017 Oct 6;17(1):134. Epub 2017 Oct 6.
    Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, 200 First St SW, Rochester, MN, 55905, USA.
    Background: Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis, myoglobinuria, acute renal failure, and postoperative fatigue. The objective of this study was to describe the perioperative course of a cohort of patients with glycogen storage diseases. Read More

    Liver-directed gene therapy for murine glycogen storage disease type Ib.
    Hum Mol Genet 2017 Nov;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

    [Characteristics of lipid metabolism and the cardiovascular system in glycogenosis types I and III].
    Ter Arkh 2017;89(8):88-94
    Federal Research Center of Nutrition and Biotechnology, Moscow, Russia.
    Glycogen storage disease (GSD) is an inherited metabolic disorder characterized by early childhood lipid metabolic disturbances with potentially proatherogenic effects. The review outlines the characteristics of impaired lipid composition and other changes in the cardiovascular system in GSD types I and III. It analyzes the factors enabling and inhibiting the development of atherosclerosis in patients with GSD. Read More

    Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia.
    Mol Genet Metab 2017 Nov 1;122(3):95-98. Epub 2017 Sep 1.
    Cardiovascular and Metabolic Disorders Program, Duke-NUS Medical School, Singapore, Singapore; Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, NC, USA. Electronic address:
    GSD Ia (von Gierke Disease, Glycogen Storage Disease Type Ia) is a devastating genetic disorder with long-term sequelae, such as non-alcoholic fatty liver disease and renal failure. Down-regulated autophagy is involved in the development of hepatic metabolic dysfunction in GSD Ia; however, the role of autophagy in the renal pathology is unknown. Here we show that autophagy is impaired and endoplasmic reticulum (ER) stress is increased in the kidneys of a mouse model of GSD Ia. Read More

    Hepatocytes contribute to residual glucose production in a mouse model for glycogen storage disease type Ia.
    Hepatology 2017 12 30;66(6):2042-2054. Epub 2017 Oct 30.
    Department of Pediatrics, Center for Liver Digestive and Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
    It is a long-standing enigma how glycogen storage disease (GSD) type I patients retain a limited capacity for endogenous glucose production despite the loss of glucose-6-phosphatase activity. Insight into the source of residual endogenous glucose production is of clinical importance given the risk of sudden death in these patients, but so far contradictory mechanisms have been proposed. We investigated glucose-6-phosphatase-independent endogenous glucose production in hepatocytes isolated from a liver-specific GSD Ia mouse model (L-G6pc mice) and performed real-time analysis of hepatic glucose fluxes and glycogen metabolism in L-G6pc mice using state-of-the-art stable isotope methodologies. Read More

    Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia.
    PLoS Genet 2017 May 30;13(5):e1006819. Epub 2017 May 30.
    Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America.
    A deficiency in glucose-6-phosphatase-α (G6Pase-α) in glycogen storage disease type Ia (GSD-Ia) leads to impaired glucose homeostasis and metabolic manifestations including hepatomegaly caused by increased glycogen and neutral fat accumulation. A recent report showed that G6Pase-α deficiency causes impairment in autophagy, a recycling process important for cellular metabolism. However, the molecular mechanism underlying defective autophagy is unclear. Read More

    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

    3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk.
    Clin Chim Acta 2017 Aug 11;471:46-54. Epub 2017 May 11.
    Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai, India. Electronic address:
    The frequency of rs2229611, previously reported in Chinese, Caucasians, Japanese and Hispanics, was investigated for the first time in Indian ethnicity. We analyzed its role in the progression of Glycogen Storage Disease type-Ia (GSD-Ia) and breast cancer. Genotype data on rs2229611 revealed that the risk of GSD-Ia was higher (P=0. Read More

    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

    Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy.
    Hum Mol Genet 2017 05;26(10):1890-1899
    Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
    Glycogen storage disease type Ia (GSD-Ia) is characterized by impaired glucose homeostasis and long-term risks of hepatocellular adenoma (HCA) and carcinoma (HCC). We have shown that the non-tumor-bearing (NT), recombinant adeno-associated virus (rAAV) vector-treated GSD-Ia mice (AAV-NT mice) expressing a wide range (0.9-63%) of normal hepatic glucose-6-phosphatase-α activity maintain glucose homeostasis and display physiologic features mimicking animals living under calorie restriction (CR). Read More

    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 4;36:79-84. Epub 2017 Feb 4.
    Division of Endocrinology, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada.
    Background: Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles. We describe hypogonadotropic hypogonadism as a novel complication in glycogen storage disease (GSD) type 1. Read More

    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

    Glycogen storage disease type Ia mice with less than 2% of normal hepatic glucose-6-phosphatase-α activity restored are at risk of developing hepatic tumors.
    Mol Genet Metab 2017 03 10;120(3):229-234. Epub 2017 Jan 10.
    Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, United States. Electronic address:
    Glycogen storage disease type Ia (GSD-Ia), characterized by impaired glucose homeostasis and chronic risk of hepatocellular adenoma (HCA) and carcinoma (HCC), is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC). We have previously shown that G6pc-/- mice receiving gene transfer mediated by rAAV-G6PC, a recombinant adeno-associated virus (rAAV) vector expressing G6Pase-α, and expressing 3-63% of normal hepatic G6Pase-α activity maintain glucose homeostasis and do not develop HCA/HCC. However, the threshold of hepatic G6Pase-α activity required to prevent tumor formation remained unknown. Read More

    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

    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

    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 09 19;25(17):3784-3797. Epub 2016 Jul 19.
    Institut National de la Santé et de la Recherche Médicale, U1213, Lyon, France
    Glycogen storage disease type I (GSDI) is a rare metabolic disease due to glucose-6 phosphatase deficiency, characterized by fasting hypoglycemia. Patients also develop chronic kidney disease whose mechanisms are poorly understood. To decipher the process, we generated mice with a kidney-specific knockout of glucose-6 phosphatase (K. Read More

    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

    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

    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):370-379. 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

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