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11 Possible Causes for Glycogen Storage Disease Type 1, Hyperuricemia, Polychromasia in Peripheral Blood Smear

  • Autoimmune Hemolytic Anemia

    Wadsworth, Hyperuricemia and Reticulocytopenia in Association With Autoimmune Hemolytic Anemia in Two Children, American Journal of Clinical Pathology, 10.1309/8DXD-VJT9-UN60[doi.org] 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]

  • 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] HGPRT (converts hypoxanthine to IMP and guanine to GMP) X-linked recessive leads to excess uric acid production Findings include retardation, self mutilation, aggression, hyperuricemia[quizlet.com] blood smear : spherocytes, polychromasia Coombs test : positive Cold agglutinins titer C3 and C4 ; (due to complement activation) Prognosis: spontaneous remission within[amboss.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] Hypernatremia Hyperphosphatemia Hyperpigmentation Hyperprolactinemia Hypertension endocrine investigation Hypertension resistant Hypertension secondary causes Hyperthyroidism Hyperuricemia[books.google.com] Tests include complete blood count (CBC) and peripheral smear.[emedicine.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] Pubmed and Google Scholar using the following key words: "methemoglobinemia", "rasburicase", "urate oxidase", tumor lysis syndrome", G6PD deficiency", "hemolytic anemia" and "hyperuricemia[ncbi.nlm.nih.gov] The peripheral blood smear showed polychromasia, anisopoikilocytosis and reticulocytosis (the reticulocyte count was 14.6%). Urine was positive for hemoglobinuria.[ncbi.nlm.nih.gov]

  • 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] […] dermatoarthritis E78.89 Other lipoprotein metabolism disorders E78.9 Disorder of lipoprotein metabolism, unspecified E79 Disorders of purine and pyrimidine metabolism E79.0 Hyperuricemia[icd10data.com] A peripheral blood smear showed poikilocytosis, polychromasia, tear-drop cells, and normoblasts.[bloodjournal.org]

  • 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] View Article : Google Scholar 22 Chao TF, Hung CL, Chen SJ, Wang KL, Chen TJ, Lin YJ, Chang SL, Lo LW, Hu YF, Tuan TC and Chen SA: The association between hyperuricemia, left[spandidos-publications.com] Peripheral blood smear shows burr and helmet cells (schistocytes) and polychromasia. Both direct and indirect Coombs' tests are negative.[quizlet.com]

  • Familial Pseudohyperkalemia

    1 - Hyperprolinemia - Sarcosinemia Carbohydrate Lactose intolerance - Glycogen storage disease ( type I , type II , type III, type IV, type V , type VI, type VII ) - fructose[bionity.com] The study population is CKD stage 3 patients with hyperuricemia (uric acid over 7 mg/dL).[pbfluids.blogspot.com] Her peripheral blood smear revealed polychromasia, target cells, and a few spherocytes.[haematologica.org]

  • 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] Hyperthyroidism, Familial Gestational 2 Hyperthyroidism, Nonautoimmune 2 Hypertrichotic Osteochondrodysplasia 2 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 1 Hyperuricemia[preventiongenetics.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]

  • 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] Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT) deficiency ------ no salvage pathway for purine re-synthesis ------ buildup of purine metabolites Hyperuricemia (gout[kumc.edu] The peripheral blood smear post-splenectomy often shows crenated or spiculated spherocytes and marked polychromasia.[clinicaladvisor.com]

  • Overhydrated Hereditary Stomatocytosis

    Glycogen storage disease due to phosphoglycerate mutase deficiency Glycogen storage disease type 0a Glycogen storage disease type 0b Glycogen storage disease type 11 Glycogen[csbg.cnb.csic.es] * Deafness craniofacial syndrome * Deafness enamel hypoplasia nail defects * Deafness epiphyseal dysplasia short stature * Deafness goiter stippled epiphyses * Deafness hyperuricemia[medicalgeek.com] Peripheral blood smear examination showed reduced red cell density with polychromasia.[mjdrdypu.org]

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