Pyruvate kinase deficiency

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Overview

Pyruvate Kinase Deficiency is an inherited autosomal recessive genetic disorder which affects the survival of red blood cells. A variety of mutations can lead to lowered production, activity, or stability of pyruvate kinase, an enzyme essential to glycolysis. A total lack of this enzyme's activity will be lethal. Because the ability of erythrocytes to manufacture ATP depends on glycolysis, the cells become deficient in energy and unable to maintain the activity of the basolateral Na+/K+-ATPase. This will result in an increase in intracellular [Na+] which will cause water to diffuse passively into the red blood cell (RBC) and will lead to swelling. This swelling will lead to lysis of the RBCs and an increase in plasma bilirubin. The increase in plasma bilirubin will lead to jaundice and the lysis of the RBCs will lead to hemolytic anemia. The buildup of reaction intermediates can also increase the level of 2,3-bisphosphoglycerate in the cells and affect tissue oxygenation. This will cause a "right shift" in the hemoglobin oxygen saturation curve, implying a decreased oxygen affinity for the hemoglobin and earlier oxygen unloading than under normal conditions.

Clincally, this disorder is most common glycolytic enzyme deficiency, that will lead to hemolytic anemia.

Most affected individuals do not require treatment. Individuals who are most severely affected may die in utero of anemia or may require blood transfusions or splenectomy, but most of the symptomatology is limited to early life and times of physiologic stress or infection.

Red blood cells use glycolysis as their sole energy source. In pyruvate kinase deficiency, the last step (phosphoenolpyruvate converted to pyruvate) of glycolsis is unable to occur. A discrepancy between red blood cell energy requirements and ATP generating capacity produces irreversible membrane injury resulting in cellular distortion, rigidity, and dehydration. This leads to premature erythrocyte destruction by the spleen and liver.


Treatment

Treatment can include a blood transfusion or removal of the spleen. Treatment is usually effective in reducing the severity of the symptoms.

Cost Effectiveness of Pyruvate kinase deficiency

| group5 = Clinical Trials Involving Pyruvate kinase deficiency | list5 = Ongoing Trials on Pyruvate kinase deficiency at Clinical Trials.govTrial results on Pyruvate kinase deficiencyClinical Trials on Pyruvate kinase deficiency at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Pyruvate kinase deficiency | list6 = US National Guidelines Clearinghouse on Pyruvate kinase deficiencyNICE Guidance on Pyruvate kinase deficiencyNHS PRODIGY GuidanceFDA on Pyruvate kinase deficiencyCDC on Pyruvate kinase deficiency


| group7 = Textbook Information on Pyruvate kinase deficiency | list7 = Books and Textbook Information on Pyruvate kinase deficiency


| group8 = Pharmacology Resources on Pyruvate kinase deficiency | list8 = AND (Dose)}} Dosing of Pyruvate kinase deficiencyAND (drug interactions)}} Drug interactions with Pyruvate kinase deficiencyAND (side effects)}} Side effects of Pyruvate kinase deficiencyAND (Allergy)}} Allergic reactions to Pyruvate kinase deficiencyAND (overdose)}} Overdose information on Pyruvate kinase deficiencyAND (carcinogenicity)}} Carcinogenicity information on Pyruvate kinase deficiencyAND (pregnancy)}} Pyruvate kinase deficiency in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Pyruvate kinase deficiency


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Pyruvate kinase deficiency | list9 = AND (pharmacogenomics)}} Genetics of Pyruvate kinase deficiencyAND (pharmacogenomics)}} Pharmacogenomics of Pyruvate kinase deficiencyAND (proteomics)}} Proteomics of Pyruvate kinase deficiency


| group10 = Newstories on Pyruvate kinase deficiency | list10 = Pyruvate kinase deficiency in the newsBe alerted to news on Pyruvate kinase deficiencyNews trends on Pyruvate kinase deficiency</small>


| group11 = Commentary on Pyruvate kinase deficiency | list11 = Blogs on Pyruvate kinase deficiency

| group12 = Patient Resources on Pyruvate kinase deficiency | list12 = Patient resources on Pyruvate kinase deficiencyDiscussion groups on Pyruvate kinase deficiencyPatient Handouts on Pyruvate kinase deficiencyDirections to Hospitals Treating Pyruvate kinase deficiencyRisk calculators and risk factors for Pyruvate kinase deficiency


| group13 = Healthcare Provider Resources on Pyruvate kinase deficiency | list13 = Symptoms of Pyruvate kinase deficiencyCauses & Risk Factors for Pyruvate kinase deficiencyDiagnostic studies for Pyruvate kinase deficiencyTreatment of Pyruvate kinase deficiency

| group14 = Continuing Medical Education (CME) Programs on Pyruvate kinase deficiency | list14 = CME Programs on Pyruvate kinase deficiency

| group15 = International Resources on Pyruvate kinase deficiency | list15 = Pyruvate kinase deficiency en EspanolPyruvate kinase deficiency en Francais

| group16 = Business Resources on Pyruvate kinase deficiency | list16 = Pyruvate kinase deficiency in the MarketplacePatents on Pyruvate kinase deficiency

| group17 = Informatics Resources on Pyruvate kinase deficiency | list17 = List of terms related to Pyruvate kinase deficiency


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