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2,075 Possible Causes for Glycogen Storage Disease Type 1, Mutation in the UROS Gene, Polychromasia in Peripheral Blood Smear

  • Erythropoietic Porphyria

    storage disease グリコーゲン蓄積症,糖原病(0a型) glycogen storage disease (type 0a) グリコーゲン蓄積症,糖原病(0b型) glycogen storage disease (type 0b) グリコーゲン蓄積症,糖原病(I型) glycogen storage disease (type[jsge.or.jp] A peripheral blood smear showed poikilocytosis, polychromasia, tear-drop cells, and normoblasts.[bloodjournal.org] CEP is caused by mutations in the UROS gene, and one of the most severe forms of the disease is associated with a cysteine to arginine substitution at residue 73 of the protein[ncbi.nlm.nih.gov]

  • Autoimmune Hemolytic Anemia

    Peripheral blood smear showed polychromasia and spherocytosis. Haptoglobin level was 0.06 g/L ( N 0.16-2). Both hemoglobin electrophoresis and G6PD level were normal.[jahjournal.org] -Red cell morphology on review of the peripheral blood smear may demonstrate microspherocytes and polychromasia which are suggestive of a reactive reticulocytosis.[oncologynurseadvisor.com] Red blood cell agglutination, polychromasia, target cells and spherocytes were seen on a peripheral smear.[jmedicalcasereports.com]

    Missing: Mutation in the UROS Gene
  • Danon Disease

    Danon disease (or glycogen storage disease Type IIb ) is a metabolic disorder. [1] Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic[en.wikipedia.org] mutation.[jcmr-online.biomedcentral.com] -2 deficiency Glycogen storage disease type 2b (formerly) Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency Lysosomal glycogen storage disease with normal[wikidata.org]

    Missing: Polychromasia in Peripheral Blood Smear
  • Glycogen Storage Disease Type 1

    Glycogen storage disease type 1 (GSD1) is an inborn error of metabolism caused by deficiency of glucose-6-phosphatase, the enzyme catalysing the conversion of glucose-6-phosphate[ncbi.nlm.nih.gov] Glycogen storage disease type 1 (GSD 1), also known as von Gierke's disease or Glycogen storage disease due to G6P deficiency, is the most common of the glycogen storage diseases[symptoma.com] Author information 1 Beatrix Children's Hospital, Groningen, The Netherlands. g.visser@oprit.rug.nl Abstract Life expectancy in glycogen storage disease type 1 (GSD-1) has[ncbi.nlm.nih.gov]

    Missing: Mutation in the UROS Gene Polychromasia in Peripheral Blood Smear
  • Hepatoerythropoietic Porphyria

    1 - Sarcosinemia Carbohydrate Lactose intolerance - Glycogen storage disease ( type I, type II, type III, type IV, type V, type VI, type VII ) - fructose metabolism ( Fructose[wikidoc.org] […] on the patient's URO-D gene, c.703 C T and IVS9-1.[ncbi.nlm.nih.gov] storage disease グリコーゲン蓄積症,糖原病(0a型) glycogen storage disease (type 0a) グリコーゲン蓄積症,糖原病(0b型) glycogen storage disease (type 0b) グリコーゲン蓄積症,糖原病(I型) glycogen storage disease (type[jsge.or.jp]

    Missing: Polychromasia in Peripheral Blood Smear
  • Congenital Neutropenia

    Drawing parallels with type 1 glycogen storage disease, we propose that poor growth of prenatal onset, mild-to-moderate learning disability, primary pulmonary hypertension[ncbi.nlm.nih.gov] Severe Congenital Neutropenia type 4 (SCN4, OMIM 612541) is a rare autosomal recessive disease due to mutations in the G6PC3 gene.[ncbi.nlm.nih.gov] […] and glycogenosis Glycogen storage disease type Ib SLC37A4 Inner ear Inner ear defect GFI 1/severe chronic neutropenia Reticular dysgenesia GFI1 AK2 Urogenital tract Uropathy[ojrd.biomedcentral.com]

    Missing: Polychromasia in Peripheral Blood Smear
  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    Abstract A new variant of glycogen storage disease (GSD) Type 1, with clinical symptoms and laboratory findings consistent with those of glucose-6-phosphatase (G6Pase) deficiency[ncbi.nlm.nih.gov] Article 56 Downloads 15 Citations Abstract A new variant of glycogen storage disease (GSD) Type 1, with clinical symptoms and laboratory findings consistent with those of[link.springer.com] A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system. J. Inher. Metab.[link.springer.com]

    Missing: Mutation in the UROS Gene Polychromasia in Peripheral Blood Smear
  • Hemochromatosis

    […] variant in the BCS1L gene; relevant for Finnish descent Gaucher Disease Type 1 3 variants in the GBA gene; relevant for Ashkenazi Jewish descent Glycogen Storage Disease Type[23andme.com] The condition is often sporadic but can be due to a deficiency of the enzyme uroporphyrinogen decarboxylase caused by autosomal dominant mutation in the gene.[clinicaladvisor.com] Ia 1 variant in the G6PC gene; relevant for Ashkenazi Jewish descent Glycogen Storage Disease Type Ib 2 variants in the SLC37A4 gene Hereditary Fructose Intolerance 4 variants[23andme.com]

    Missing: Polychromasia in Peripheral Blood Smear
  • Microcytic Anemia

    storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas. ( 29486517 ) Moest W....Derks T.G.J. 2018 5 Critical appraisal of discriminant formulas[malacards.org] No mutation or rearrangement in UROS or in the globin genes or in their major regulatory elements were identified.[dx.doi.org] […] iron overload. ( 29178181 ) Casale M....Perrotta S. 2018 3 Microcytic anemia due to ileocolic anastomotic ulcer. ( 29588085 ) Rivera Esteban J.M....Alonso-Cotoner C. 2018 4 Glycogen[malacards.org]

    Missing: Polychromasia in Peripheral Blood Smear
  • Glycogen Storage Disease

    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[ncbi.nlm.nih.gov] Treatment for renal stone in a 2-year-old boy with glycogen storage disease type 1 (GSD-1) is reported.[ncbi.nlm.nih.gov] Type I glycogen storage disease (GSD I), also known as von Gierke’s disease, is the most common form of glycogen storage disease, accounting for 25% of all cases.[liverfoundation.org]

    Missing: Mutation in the UROS Gene Polychromasia in Peripheral Blood Smear

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