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.gov • Trial results on Pyruvate kinase deficiency • Clinical 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 deficiency • NICE Guidance on Pyruvate kinase deficiency • NHS PRODIGY Guidance • FDA on Pyruvate kinase deficiency • CDC 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 deficiency • AND (drug interactions)}} Drug interactions with Pyruvate kinase deficiency • AND (side effects)}} Side effects of Pyruvate kinase deficiency • AND (Allergy)}} Allergic reactions to Pyruvate kinase deficiency • AND (overdose)}} Overdose information on Pyruvate kinase deficiency • AND (carcinogenicity)}} Carcinogenicity information on Pyruvate kinase deficiency • AND (pregnancy)}} Pyruvate kinase deficiency in pregnancy • AND (pharmacokinetics)}} Pharmacokinetics of Pyruvate kinase deficiency •

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

| group10 = Newstories on Pyruvate kinase deficiency | list10 = Pyruvate kinase deficiency in the news • Be alerted to news on Pyruvate kinase deficiency • News 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 deficiency • Discussion groups on Pyruvate kinase deficiency • Patient Handouts on Pyruvate kinase deficiency • Directions to Hospitals Treating Pyruvate kinase deficiency • Risk calculators and risk factors for Pyruvate kinase deficiency

| group13 = Healthcare Provider Resources on Pyruvate kinase deficiency | list13 = Symptoms of Pyruvate kinase deficiency • Causes & Risk Factors for Pyruvate kinase deficiency • Diagnostic studies for Pyruvate kinase deficiency • Treatment 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 Espanol • Pyruvate kinase deficiency en Francais

| group16 = Business Resources on Pyruvate kinase deficiency | list16 = Pyruvate kinase deficiency in the Marketplace • Patents on Pyruvate kinase deficiency

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

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