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PKLR gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PKLR gene

The PKLR gene provides instructions for producing the enzyme pyruvate kinase, which is vital for energy production in red blood cells and the liver.

Overview

The PKLR gene is active in the liver and in red blood cells, where it provides instructions for producing an enzyme called pyruvate kinase. This enzyme is involved in glycolysis, the process by which glucose is broken down to produce energy.

Normal Function

Pyruvate kinase facilitates the final step of the glycolytic pathway. It moves a phosphate group from phosphoenolpyruvate to adenosine diphosphate (ADP), resulting in the production of pyruvate and adenosine triphosphate (ATP). ATP serves as the cell's primary energy source.

Health Conditions Related to Genetic Changes

Pyruvate kinase deficiency

More than 200 mutations in the PKLR gene have been identified in people with pyruvate kinase deficiency. Individuals with this disorder inherit two mutated copies of the gene.

  • Mutation impact: Most mutations replace single amino acids or result in an abnormally short enzyme, leading to reduced enzyme function.
  • Cellular effect: Reduced function causes a shortage of ATP in red blood cells. These abnormal cells are then destroyed by the spleen.
  • Symptoms: The resulting anemia leads to fatigue, pale skin, and shortness of breath. The destruction of red blood cells also releases iron and bilirubin, which can cause jaundice and increase the risk of gallstones.

Other disorders

Researchers believe that carrying one copy of a PKLR gene mutation may provide partial protection against malaria. The reduction in functional pyruvate kinase appears to make it more difficult for the malaria parasite to invade red blood cells. This may explain why these mutations are more frequent in certain African populations where malaria is a significant health concern.

Other Names for This Gene

  • KPYR_HUMAN
  • PK1
  • PKL
  • PKR
  • PKRL
  • pyruvate kinase 1
  • pyruvate kinase isozyme R/L
  • pyruvate kinase type L
  • pyruvate kinase, liver and blood cell
  • pyruvate kinase, liver and RBC
  • R-type/L-type pyruvate kinase
  • red cell/liver pyruvate kinase
  • RPK

Frequently Asked Questions

Carriers of a single PKLR mutation have been shown to have partial resistance to malaria because the parasite struggles to invade less energetic red blood cells. This protective effect is mainly of epidemiological interest and does not alter clinical management of pyruvate kinase deficiency, which focuses on treating hemolysis and its complications.
balanced diet rich in antioxidants (vitamins C and E) may help reduce oxidative stress on red cells. Adequate hydration, avoiding alcohol, and limiting high‑fat meals can reduce gallstone risk. Patients should also avoid strenuous exercise that may trigger hemolysis and discuss any new medications with their hematologist, as some drugs can worsen hemolysis.
Diagnosis starts with a complete blood count showing hemolytic anemia, followed by a reticulocyte count and bilirubin levels. A definitive diagnosis requires a pyruvate kinase activity assay on red blood cells, and genetic testing for PKLR mutations confirms the underlying cause.
Patients typically present with fatigue, pallor, shortness of breath, and jaundice due to hemolysis. Unlike iron‑deficiency anemia, pyruvate kinase deficiency often causes elevated bilirubin and may lead to gallstones. The anemia is usually non‑responsive to iron supplements and may worsen during infections or stress.
Management includes regular blood transfusions to maintain hemoglobin, iron chelation therapy to prevent overload, and, in selected cases, splenectomy to reduce red cell destruction. Emerging gene‑therapy trials are investigating lentiviral vector‑mediated correction of the PKLR gene, but these are currently investigational.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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