Search our Database of Scientific Publications and Authors

I’m looking for a

    216 results match your criteria Glycogen Storage Disease Type Ib

    1 OF 5

    A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy.
    JIMD Rep 2017 Nov 9. Epub 2017 Nov 9.
    Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia.
    We report the third case of Glycogen Storage Disease type 1b (GSD 1b) with Giant Cell Tumour (GCT) of the mandible, associated with Granulocyte Colony Stimulating Factor (G-CSF) use. G-CSF in GSD 1b is indicated for persistent neutropaenia, sepsis, inflammatory bowel disease and severe diarrhoea. Our patient was 12 years old at GCT diagnosis and had been treated with G-CSF from 5 years of age. Read More

    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

    Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and three novel SLC37A4 variants.
    Clin Genet 2017 Jul 7. Epub 2017 Jul 7.
    Institute of Molecular Genetics and Genetic Engineering, University of Belgrade.
    Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and five Ia patients. Read More

    Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy.
    J Inherit Metab Dis 2017 Jun 13. Epub 2017 Jun 13.
    Glycogen Storage Disease Program, University of Florida, Gainesville, FL, USA.
    The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to medical intervention, and it is thought to inexorably progress to overt proteinuria and renal failure. Recent reports of reduced microalbuminuria following strict adherence to therapy counter this view. Read More

    Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.
    Ophthalmic Genet 2017 Dec 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

    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 May 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

    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

    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 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

    Rapid height growth after liver transplantation in adulthood.
    Growth Horm IGF Res 2016 Aug 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

    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

    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

    Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.
    JIMD Rep 2016 30;25:39-45. Epub 2015 Jun 30.
    Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università degli Studi "Federico II", Naples, Italy.
    Background: It has been suggested, on a few GSD1b patients, that vitamin E improves neutrophil count and reduces frequency and severity of infections.The main objective of the present study was to investigate the efficacy of vitamin E on the neutropenia, neutrophil dysfunction and IBD in the entire Italian caseload of GSD1b patients.

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

    High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia.
    JIMD Rep 2015 21;24:123-8. Epub 2015 Jun 21.
    Glycogen Storage Disease Program, Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida College of Medicine, 100296, Gainesville, FL, 32610-0296, USA.
    Most patients with glycogen storage disease (GSD) type Ib show features related to inflammatory bowel disease (IBD). The development of IBD seems to be associated with the defect of neutrophil function in GSD Ib. Patients with GSD Ia were not recognized to have similar gastrointestinal complaints until recently and are not associated with a neutrophil defect. Read More

    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

    Does type I truly dominate hepatic glycogen storage diseases in Korea?: a single center study.
    Pediatr Gastroenterol Hepatol Nutr 2014 Dec 31;17(4):239-47. Epub 2014 Dec 31.
    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
    Purpose: There are no studies of hepatic glycogen storage diseases (GSDs) other than type I and III in Korea. We aimed on investigating the characteristics of hepatic GSDs in Korea diagnosed and followed at a single center.

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

    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

    Neutrophil energetics and oxygen sensing.
    Blood 2014 May;123(18):2753-4
    UNIVERSITY OF SHEFFIELD.
    In this issue of Blood, Jun et al, through the study of neutrophils deficient in the glucose-6-phosphate transporter, describe a novel role for the peroxisome proliferator-activated receptor-γ (PPARG) pathway in the regulation of key neutrophil functions and link this to concomitant hypoxia-inducible factor (HIF) 1α stabilization. Read More

    [Cochlear implantation in immunocompromised patients].
    Vestn Otorinolaringol 2014 (2):93-4
    This paper reports a clinical case that gives evidence of the possibility of cochlear implantation after liver transplantation. Patient K. aged 3 years 10 months was admitted to the Russian Research and Practical Centre of Audiology and Hearing Rehabilitation with the diagnosis of type IB glycogenosis after maternal liver transplantation associated with chronic neutropenia, chronic cutaneous and mucosal infection, partial symptomatic partial epilepsy, retarded psycho-motor development, and complaints of the absence of auditory response. Read More

    The SLC37 family of sugar-phosphate/phosphate exchangers.
    Curr Top Membr 2014 ;73:357-82
    Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA; Foundation Fighting Blindness, Columbia, Maryland, USA.
    The SLC37 family members are endoplasmic reticulum (ER)-associated sugar-phosphate/phosphate (P(i)) exchangers. Three of the four members, SLC37A1, SLC37A2, and SLC37A4, function as Pi-linked glucose-6-phosphate (G6P) antiporters catalyzing G6P:P(i) and P(i):P(i) exchanges. The activity of SLC37A3 is unknown. Read More

    Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.
    Ital J Pediatr 2014 Mar 19;40(1):30. Epub 2014 Mar 19.
    Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via S, Pansini 5, 80131 Naples, Italy.
    Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypoglycemia, and dyslipidemia. Patients affected by GSD1b also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections. Read More

    Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patient.
    Genes Cells 2013 Dec 28;18(12):1053-69. Epub 2013 Oct 28.
    Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, 3-1 Tanabe-dori, Mizuho-ku, Nagoya, 467-8603, Japan.
    Glycogen storage disease type Ib (GSDIb) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT), which leads to neutrophil dysfunction. However, the underlying causes of these dysfunctions and their relationship with glucose homeostasis are unclear. Induced pluripotent stem cells (iPSCs) hold a great promise for advances in developmental biology, cell-based therapy and modeling of human disease. Read More

    Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.
    Blood 2014 May 24;123(18):2843-53. Epub 2014 Feb 24.
    Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD;
    Glycogen storage disease type Ib (GSD-Ib) is an autosomal-recessive syndrome characterized by neutropenia and impaired glucose homeostasis resulting from a deficiency in the glucose-6-phosphate (G6P) transporter (G6PT). The underlying cause of GSD-Ib neutropenia is an enhanced neutrophil apoptosis, but patients also manifest neutrophil dysfunction of unknown etiology. Previously, we showed G6PT interacts with the enzyme glucose-6-phosphatase-β (G6Pase-β) to regulate the availability of G6P/glucose in neutrophils. Read More

    Pregnancy in women with glycogen storage disease Ia and Ib.
    J Perinat Neonatal Nurs 2014 Jan-Mar;28(1):26-31
    University of Florida, Gainesville, Florida (Ms Ferrecchia); Bard College at Simon's Rock, Great Barrington, Massachusetts (Ms Guenette); UFHealth, Gainesville, Florida (Ms Potocik); and University of Florida College of Medicine, Gainesville (Dr Weinstein).
    Over the past 9 decades since glycogen storage disease (GSD) was described, an almost universally fatal disease has become one where women are living well into adulthood and choosing to bear children. This inborn error of metabolism associated with the creation and utilization of glycogen, when untreated, manifests with unrelenting hypoglycemia. The initiation of continuous feeds has improved outcomes, and later in 1982, the administration of intermittent doses of cornstarch in water provided a continuous supply of exogenous glucose. Read More

    Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.
    Horm Res Paediatr 2014 21;81(1):55-62. Epub 2013 Dec 21.
    Dipartimenti di Pediatria, Università Federico II, Napoli, Italy.
    Background: Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1.

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

    Glycogen storage disease type 1b: an early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient.
    Genet Couns 2014 ;25(4):389-94
    Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders that include types Ia and Ib. GSD-Ib is caused by a deficiency in the glucose-6-phosphate transporter (G6PT) caused by a mutation in the SLC37A4 gene coding for G6PT. Glycogen storage disease is characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver and chronic neutropenia. Read More

    Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study.
    JIMD Rep 2014 21;14:47-53. Epub 2013 Dec 21.
    Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy,
    Background: Glycogen storage disease type I (GSD I) is a chronic metabolic disease that requires a lifelong strict dietetic treatment to avoid hypoglycemia and can lead to severe complications during adult age. Impaired quality of life (QoL) has been reported in affected children, but this aspect has not been previously investigated in adults.

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

    Continuous glucose monitoring in children with glycogen storage disease type I.
    Eur J Clin Nutr 2014 Jan 23;68(1):101-5. Epub 2013 Oct 23.
    Department of Pediatric Metabolism, Gazi University Hospital, Ankara, Turkey.
    Background/objectives: Glycogen storage disease type I (GSD I) is an autosomal recessive metabolic disorder caused by defects in the glucose-6-phosphatase complex. Deficient activity in the glucose-6-phosphatase-α catalytic unit characterizes GSD Ia and defects in the glucose-6-phosphate transporter protein characterize GSD Ib. Type Ia involves the liver, kidney and intestine (and Ib also leukocytes), and the clinical manifestations are hepatomegaly, failure to thrive, severe fasting hypoglycemia within 3-4 h after a meal, hyperlactatemia, hyperuricemia and hyperlipidemia. Read More

    [Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
    Zhongguo Dang Dai Er Ke Za Zhi 2013 Aug;15(8):661-5
    Department of Endocrinology and Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou 510623, China.
    Objective: Glycogen storage disease type Ib (GSDIb) is caused by a deficiency of glucose-6-phosphate translocase (G6PT) activity due to SLC37A4 gene mutations. Most GSDIb patients have recurrent infections and inflammatory bowel disease, with poor prognosis. Detection of SLC37A4 gene mutations is of great significance for the diagnosis, subtyping and outcome prediction of GSD patients. Read More

    The SLC37 family of phosphate-linked sugar phosphate antiporters.
    Mol Aspects Med 2013 Apr-Jun;34(2-3):601-11
    Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
    The SLC37 family consists of four sugar-phosphate exchangers, A1, A2, A3, and A4, which are anchored in the endoplasmic reticulum (ER) membrane. The best characterized family member is SLC37A4, better known as the glucose-6-phosphate (G6P) transporter (G6PT). SLC37A1, SLC37A2, and G6PT function as phosphate (Pi)-linked G6P antiporters catalyzing G6P:Pi and Pi:Pi exchanges. Read More

    Liver cirrhosis in glycogen storage disease Ib.
    Mol Genet Metab 2013 Mar 11;108(3):198-200. Epub 2013 Jan 11.
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Moorenstr. 5, D-40225 Duesseldorf, Germany.
    Glycogen storage disease Ib is an inborn error of carbohydrate metabolism leading to impaired glycogenolysis and gluconeogenesis. Cardinal symptoms include fasting hypoglycemia, lactic acidosis and hepatomegaly as well as neutropenia. We report for the first time on the development of liver cirrhosis in a nine-year-old boy in the course of glycogen storage disease Ib and discuss possible underlying pathomechanisms. Read More

    Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria.
    Cell Transplant 2012 10;21(12):2765-70. Epub 2012 Aug 10.
    Université Catholique de Louvain, Cliniques Universitaires St Luc, Service de Gastroentérologie et Hépatologie Pédiatrique, Banque D'hépatocytes, Bruxelles, Belgium.
    Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. Read More

    Noncompaction myocardium in association with type Ib glycogen storage disease.
    Pathol Res Pract 2012 Oct 31;208(10):620-2. Epub 2012 Jul 31.
    Institute of Pathology, University Hospital Heidelberg, Germany.
    Noncompaction myocardium is a rare disorder assumed to occur as an arrest of the compaction process during the normal development of the heart. Left ventricular noncompaction has been reported to be associated with a variety of cardiac and extracardiac, especially neuromuscular abnormalities. Moreover, it has been suggested that metabolic alterations could be responsible for the noncompaction. Read More

    Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.
    Genet Med 2012 Sep 7;14(9):795-9. Epub 2012 Jun 7.
    Glycogen Storage Disease Program and Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida, Gainesville, FL, USA.
    Purpose: The aim of this study was to characterize the frequency and causes of anemia in glycogen storage disease type I.

    Methods: Hematologic data and iron studies were available from 202 subjects (163 with glycogen storage disease Ia and 39 with glycogen storage disease Ib). Anemia was defined as hemoglobin concentrations less than the 5th percentile for age and gender; severe anemia was defined as presence of a hemoglobin <10 g/dl. Read More

    Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study.
    J Inherit Metab Dis 2013 Jan 5;36(1):83-9. Epub 2012 May 5.
    Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.
    Background: Life expectancy of patients with glycogen storage disease (GSD) type I has improved considerably, opening new problems correlated with adult age. In females polycystic ovaries (PCOs) has been described as frequently associated with the disease, however successful pregnancies have been reported. Whether or not GSD I is associated with impaired reproductive function is still unclear. Read More

    Clinical manifestations and outcomes of pediatric chronic neutropenia.
    J Formos Med Assoc 2012 Apr 16;111(4):220-7. Epub 2012 Mar 16.
    Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan, ROC.
    Background/purpose: Neutropenia is a decrease in the number of circulating neutrophils. When neutropenia persists for more than 3 months, it becomes chronic. A heterogeneous group of diseases in children can cause chronic neutropenia. Read More

    Bone mineral density in glycogen storage disease type Ia and Ib.
    Genet Med 2012 Apr 5. Epub 2012 Apr 5.
    Glycogen Storage Disease Program and Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida, Gainesville, Florida, USA.
    Purpose:The aim of this study was to characterize the pathogenesis of low bone mineral density in glycogen storage disease type Ia and Ib.Methods:A retrospective chart review performed at the University of Florida Glycogen Storage Disease Program included patients with glycogen storage disease type Ia and Ib for whom dual-energy X-ray absorptiometry analysis was performed. A Z-score less than -2 SD was considered low. Read More

    Hypercalcemia in glycogen storage disease type I patients of Turkish origin.
    Turk J Pediatr 2012 Jan-Feb;54(1):35-7
    Division of Metabolic Diseases, Department of Pediatrics, Gazi, Turkey.
    Glycogen storage disease type I (GSD I) is an autosomal recessive disorder caused by defects in the glucose-6-phosphatase complex. Deficient activity in the glucose-6-phosphatase-a (G6Pase) catalytic unit characterizes GSD IA and defects in the glucose-6-phosphate transporter protein (G6PC) characterize GSD IB. The main clinical characteristics involve fasting hypoglycemia, hyperuricemia, hyperlactatemia, and hyperlipidemia. Read More

    Glucose-6-phosphatase deficiency.
    Orphanet J Rare Dis 2011 May 20;6:27. Epub 2011 May 20.
    Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pédiatrie, APHP, Clamart cedex, France.
    Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. Read More

    Congenital neutropenia: diagnosis, molecular bases and patient management.
    Orphanet J Rare Dis 2011 May 19;6:26. Epub 2011 May 19.
    Service d'Hémato-Oncologie Pédiatrique Registre des neutropénies congénitales, AP-HP Hopital Trousseau, 26 avenue du Dr Netter, Paris, France.
    The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe (<0.5 G/l) or mild (between 0.5-1. Read More

    [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
    Zhonghua Er Ke Za Zhi 2011 Mar;49(3):203-8
    Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
    Objective: Glycogen storage disease type Ib (GSDIb, MIM: 232220) is an autosomal recessive inborn error of metabolism caused by deficiency of the glucose-6-phosphate translocase. The clinical manifestations include symptoms and signs of both the typical GSDIa, including hepatomegaly, fasting hypoglycemia, lactic acidemia and hyperlipidemia, and the dysfunction of neutrophils of recurrent infection and neutropenia. More than 84 mutations have been identified since the discovery of the SLC37A4 gene as the disease causing gene. Read More

    Recombinant AAV-directed gene therapy for type I glycogen storage diseases.
    Expert Opin Biol Ther 2011 Aug 20;11(8):1011-24. Epub 2011 Apr 20.
    Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, Bethesda, MD 20892 1830, USA.
    Introduction: Glycogen storage disease (GSD) type Ia and Ib are disorders of impaired glucose homeostasis affecting the liver and kidney. GSD-Ib also affects neutrophils. Current dietary therapies cannot prevent long-term complications. Read More

    Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infancy.
    Acta Paediatr 2011 Sep 15;100(9):e130-2. Epub 2011 Mar 15.
    Department of Paediatrics, Children's Hospital, London Health Sciences Centre, University of Western Ontario, London, ON, Canada.
    Unlabelled: We report the case of a 3-month-old boy who presented with a 3-day history of respiratory tract infection and poor feeding. He was incidentally found to have profound hypoglycaemia, high-anion-gap lactic acidosis, ketonuria, hyperlipidemia, hepatomegaly, growth failure and neutropenia. Glycogen storage disease type Ib (GSD Ib), an autosomal recessive metabolic defect of the microsomal transporter glucose-6-phosphate-translocase, was suspected and confirmed by genetic testing. Read More

    Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib.
    J Inherit Metab Dis 2010 Dec 20;33 Suppl 3:S477-80. Epub 2010 Nov 20.
    APHP, Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.
    Patients with type I glycogen storage disease (GSD) have poor tolerance to fasting, sometimes less than 3 hours during infancy. Even though most patients are able, as they get older, to tolerate a longer fasting period, they are at permanent risk for fast-induced hypoglycaemia, even in adulthood. Klüver Bucy syndrome, is characterized by psychic blindness (inability to recognize familiar objects), hypermetamorphosis (strong tendency to react to visual stimulus), increased oral exploration, placidity, indiscriminate hyper-sexuality and change in dietary habits. Read More

    1 OF 5