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14 Possible Causes for Glycogen Storage Disease Type 1, Polychromasia in Peripheral Blood Smear, Rigor

  • 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] A 60-year-old man with fever, rigors, and sweats. N Engl J Med . 2003;349:1168–75. 6. Ucar K. Clinical presentation and management of hemolytic anemias.[aafp.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]

  • Paroxysmal Cold Hemoglobinuria

    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] Tests include complete blood count (CBC) and peripheral smear.[emedicine.com] Fever with rigor is common, alongside abdominal cramping, pallor, nausea, vomiting, diarrhea, cephalalgia, and muscle spasms in the lower extremities.[symptoma.com]

  • Zieve's Syndrome

    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] The peripheral blood smear revealed polychromasia and nucleated erythrocytes. The parents’ blood counts and smears were normal.[indianpediatrics.net] URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability.[umms.org]

  • Chronic Acquired Pure Red Cell Aplasia

    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] blood smear showed anisocytosis, poikilocytosis, polychromasia and leukocytosis.[ijmstrust.in] storage disease due to aldolase A deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogen storage disease due to phosphoglycerate kinase[se-atlas.de]

  • 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] Rigorous photoprotection of the skin and eyes from visible light is essential in all patients.[ncbi.nlm.nih.gov]

  • Congenital Alpha-2-Antiplasmin Deficiency

    Storage Disease, Type 0 Glycogen Storage Disease, Type Ia Glycogen Storage Disease, Type Ib Glycogen Storage Disease, Type II Glycogen Storage Disease, Type II, Adult Form[sequencing.com] smear sickle cells with nucleation polychromasia Holley Jolly bodies abnormally high number of red blood cells found in the bloodstream as a result of being prematurely released[quizlet.com] The rationale for the use of these interventions is quite solid and has led to their incorporation into clinical practice; yet few of them have been rigorously tested in adults[wjgnet.com]

  • Idiopathic Neonatal Atrial Flutter

    Arad M et al . (2002) Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy . J Clin Invest 109 : 357–362 45.[nature.com] Peripheral blood smear shows burr and helmet cells (schistocytes) and polychromasia. Both direct and indirect Coombs' tests are negative.[quizlet.com] Rarely, suspected metabolic diseases (isolated myocardial carnitine deficiency, rare forms of glycogen storage disease, fatty acid oxidation defects) or persistent myocarditis[transplantbuddies.org]

  • Neonatal Isoimmune Neutropenia

    Glycogen storage disease type 1 Glycogen storage disease2 type 1, also known as von Gierke disease, is caused by a deficiency in microsomal glucose-6-phosphatase3 activity[slideshare.net] The reticulocyte count, or presence of polychromasia on the peripheral blood smear, can help assess bone marrow response to anemia. As Dr.[captodayonline.com] storage disease type 1b G6PT1 AR Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly X-linked neutropenia WAS XL Neutropenia, monocytopenia, myeloid maturation[arupconsult.com]

  • Glucose-6-Phosphate Dehydrogenase Deficiency

    In PFK deficiency (glycogen storage disease type VII), clinical hallmarks are male predominance with early onset gout, compensated hemolytic process, and prominent myopathy[ommbid.mhmedical.com] The peripheral blood smear showed polychromasia, anisopoikilocytosis and reticulocytosis (the reticulocyte count was 14.6%). Urine was positive for hemoglobinuria.[ncbi.nlm.nih.gov] These in silico tools were tested for their predicting efficiency using rigorous statistical analyses.[ncbi.nlm.nih.gov]

  • Y-Linked Retinitis pigmentosa

    , Phospoglycerate kinase 1 deficiency form of Glycogen storage disease, Hunter’s syndrome, G6PD deficiency, HGPRT deficiency, OTC deficiency Most of the inherited inmmunodeficiencies[epomedicine.com] Peripheral smear revealed red blood cells with mild degree of anisocytosis, poikilocytosis, polychromasia with hypochromic, macrocytic RBCs, target cells and sickle cells.[ijo.in] Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results.[blueprintgenetics.com]

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