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2,724 Possible Causes for Glycogen Storage Disease Type 1, Lactate Dehydrogenase Increased, Polychromasia in Peripheral Blood Smear

  • Autoimmune Hemolytic Anemia

    Unconjugated bilirubin is usually, but not always, elevated and urine urobilinogen is increased. Lactate dehydrogenase is usually elevated into the thousands.[clinlabnavigator.com] 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] Increased serum unconjugated bilirubin, increased lactate dehydrogenase (LDH) and reduced or absent haptoglobin. Increased urinary urobilinogen, haemosiderinuria.[patient.info]

  • Glycogen Storage Disease Type 1

    The incresased levels of pyruvate lead to increased lactate produciton via lactate dehydrogenase (LDH) and alanine via alanine transaminase (ALT).[themedicalbiochemistrypage.org] 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] Similarly, Lactate dehydrogenase (LDH) deficiency is not increased in any particular sub-population group.[cancertherapyadvisor.com]

    Missing: Polychromasia in Peripheral Blood Smear
  • Glycogen Storage Disease Type 2

    dehydrogenase are increased in most patients with PD but may occasionally be within normal limits in those with adult-onset PD. 34 Muscle biopsies for primary diagnostic[dx.doi.org] […] deficiency Glycogen storage disease Glycogen storage disease type III Glycogen storage disease type VIII Glycogen storage disease, type 1 Glycogen storage disease, type 2[icd9data.com] […] in muscle Heterozygotes: Manifesting patients described Variant syndrome Symptoms associated with statin use: 1 patient Lactate dehydrogenase A deficiency (GSD 11) L-lactate[neuromuscular.wustl.edu]

    Missing: Polychromasia in Peripheral Blood Smear
  • Glucose-6-Phosphate Dehydrogenase Deficiency

    Furthermore, we observed a significant decrease in the activity of succinic dehydrogenase, NADH tetrazolium reductase, lactate dehydrogenase , and non-specific acid phosphatase[de.glosbe.com] 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]

  • Anemia due to Glutathione Metabolism Disorder

    Total and unconjugated bilirubin : levels are increased due to increased RBC destruction Serum lactate dehydrogenase (LDH) level : increased Serum haptoglobin level : decreased[medcaretips.com] […] 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]

  • Macronodular Cirrhosis

    storage diseases, chronic hepatitis, autoimmune hepatitis, infiltrative diseases, alcoholic liver disease, drug-induced liver disease, and primary or secondary carcinoma.[encyclopedia.lubopitko-bg.com] storage disease , galactosemia , and disorders of amino acid metabolism.[livingwiththediagnosis.wordpress.com] Glycogen storage disease, Veno-occlusive disease. Idiopathic. (cryptogenic). What are the complications caused by cirrhosis. (4) Portal hypertension.[brainscape.com]

    Missing: Polychromasia in Peripheral Blood Smear
  • Myopathy

    The laboratory evaluation was remarkable for the marked increase in the serum lactate dehydrogenase and creatine phosphokinase levels.[ncbi.nlm.nih.gov] INTRODUCTION: McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase.[ncbi.nlm.nih.gov] Disorders of glycogen metabolism include rare hereditary muscle glycogen storage diseases with polyglucosan, which are characterized by storage of abnormally structured glycogen[ncbi.nlm.nih.gov]

    Missing: Polychromasia in Peripheral Blood Smear
  • Hepatocellular Carcinoma

    dehydrogenase, inhibited cell migration, and enhanced the apoptosis rate in HepG2 and PLC/PRF/5 cells. 5h2c led to an increase in intracellular reactive oxygen species levels[ncbi.nlm.nih.gov] type 1 and III [3,4].[sciencerepository.org] […] deficiency Ataxia telangiectasia Budd-Chiari syndrome Galactosemia Hemochromatosis Hereditary tyrosinemia Type 1 glycogen storage disease Wilson’s disease Only about a third[stjude.org]

    Missing: Polychromasia in Peripheral Blood Smear
  • Portal Cirrhosis

    Less common causes include genetic conditions such as hemochromatosis, cystic fibrosis, Wilson’s disease, biliary atresia, and glycogen storage disease.[news-medical.net] storage disease Tyrosinemia Wilson disease Alpha1-antitrypsin deficiency Cystic fibrosis Bile duct diseases: Biliary artresia Sclerosing cholangitis Congenital hepatic fibrosis[chp.edu] storage disease) Genetic digestive disorder (Alagille syndrome) Liver disease caused by your body's immune system (autoimmune hepatitis) Destruction of the bile ducts (primary[mayoclinic.org]

    Missing: Polychromasia in Peripheral Blood Smear
  • Drug-induced Toxic Hepatitis

    Lactate dehydrogenase (LD) – an enzyme released with cell damage; found in cells throughout the body.[labtestsonline.org] 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 GGT test helps to differentiate between the causes of an elevated ALP; if GGT is increased, then the elevated ALP is due to liver, not bone disease.[labtestsonline.org]

    Missing: Polychromasia in Peripheral Blood Smear

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