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13 Possible Causes for Glycogen Storage Disease Type 1, Polychromasia in Peripheral Blood Smear, Red Urine

  • 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] Symptoms Symptoms may include: Chills Fever Back pain Leg pain Abdominal pain Headache General discomfort, uneasiness, or ill feeling ( malaise ) Blood in the urine (red urine[ufhealth.org]

  • 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] Laboratory findings showed mild hemolysis, red urine, increased serum alkaline phosphatase level, and fluorescence of the red blood cell and urine.[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] Spherocytes in the peripheral blood smear indicate ongoing red cell destruction.[clinlabnavigator.com] -Red cell morphology on review of the peripheral blood smear may demonstrate microspherocytes and polychromasia which are suggestive of a reactive reticulocytosis.[oncologynurseadvisor.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] Hemolytic anemia is visible in hemoglobinuria and hemosiderin urine.[athena.targetwoman.com]

  • Hemolytic Anemia due to a Disorder of Glycolytic Enzymes

    "Glycogen storage disease type I: diagnosis, management, clinical course and outcome.Results of the European study on glycogen storage disease type I".[cancertherapyadvisor.com] blood smear : spherocytes, polychromasia Coombs test : positive Cold agglutinins titer C3 and C4 ; (due to complement activation) Prognosis: spontaneous remission within[amboss.com] The peripheral blood smear post-splenectomy often shows crenated or spiculated spherocytes and marked polychromasia.[clinicaladvisor.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] CONCLUSION AND RECOMMENDATIONS: G6PD deficiency anemia presented mainly with pallor, dark red urine and jaundice after exposure to certain diets, drugs and diseases and therefore[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] […] black urine Pathogenesis: induced apoptosis in glomerular endothel cells -- chemokine/cytokine expression -- WBC inflammation -- endothel damage, microvasc thrombosis (from[flashcardmachine.com]

  • 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] […] increased urination coughing trouble breathing redness or swelling around wounds unusual vaginal discharge If an infection takes hold, there is a risk of febrile neutropenia[medicalnewstoday.com]

  • Pyruvate Kinase 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] Peripheral blood smear showed polychromasia, anisocytosis, tear drop cells, fragmented eyrtrocytes, and target cells.[ncbi.nlm.nih.gov] Another striking feature noted during exacerbation is the red-black urine of the first morning specimen.[kundoc.com]

  • Anemia due to Glutathione Metabolism Disorder

    […] deficiency GK Glycogen storage disease of heart (lethal) PRKAG2 Glycogen storage disease type 0 muscle GYS1 Glycogen storage disease type 0 GYS2 Glycogen storage disease[centogene.com] The peripheral blood smear post-splenectomy often shows crenated or spiculated spherocytes and marked polychromasia.[clinicaladvisor.com] Hemolytic anemia is characterized by chills, dark urine, fatigue and a rapid heart rate.[livestrong.com]

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