pyruvate kinase deficiency

Pathology

• deficiency of enzyme pyruvate kinase in erythrocytes
• hemolytic anemia

Genetics

• autosomal recessive

Clinical manifestations

• anemia
• jaundice, icterus
• fatigue, lethargy
• pallor

Laboratory

• serum bilirubin
• complete blood count (CBC)
  • macrocytosis
• pyruvate kinase genotyping
• serum haptoglobin
• osmotic fragility
• pyruvate kinase in erythrocytes
• stool urobilinogen
• see ARUP consult

Complications

• bilirubin gallstones

Management

• blood transfusions as needed
• exchange transfusion may be needed in newborns with jaundice
• splenectomy may reduce hemolysis
• mitapivat (Pyrukynd) is a pyruvate kinase activator FDA-approved to treat hemolytic anemia in adults with pyruvate kinase deficiency

More general terms

• carbohydrate inborn error of metabolism

Additional terms

• pyruvate kinase