Pyruvate Kinase Deficiency Overview
Learn About Pyruvate Kinase Deficiency
Pyruvate kinase deficiency is an inherited lack of the enzyme pyruvate kinase, which is used by red blood cells. Without this enzyme, red blood cells break down too easily, resulting in a low level of these cells (hemolytic anemia).
PK deficiency; PKD
Pyruvate kinase deficiency (PKD) is passed down as an autosomal recessive trait. This means that a child must receive a non-working gene from each parent to develop the disorder.
There are many different types of enzyme-related defects of the red blood cell that can cause hemolytic anemia. PKD is the second most common cause, after glucose-6-phosphate dehydrogenase (G6PD) deficiency.
PKD is found in people of all ethnic backgrounds. But, certain populations, such as the Amish, are more likely to develop the condition.
Symptoms of PKD include:
- Low count of healthy red blood cells (anemia)
- Swelling of the spleen (splenomegaly)
- Yellow color of the skin, mucous membranes, or white part of the eyes (jaundice)
- Neurologic condition, called kernicterus, that affects the brain
- Fatigue, lethargy
- Pale skin (pallor)
- In infants, not gaining weight and growing as expected (failure to thrive)
- Gallstones, usually in the teens and older
People with severe anemia may need blood transfusions. Removing the spleen (splenectomy) may help reduce the destruction of red blood cells. But, this does not help in all cases. In newborns with a dangerous level of jaundice, the provider may recommend an exchange transfusion. This procedure involves slowly removing the infant's blood and replacing it with fresh donor blood or plasma.
Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5.
Jenny Despotovic is a Pediatric Hematologist Oncology specialist and a Pediatrics provider in Houston, Texas. Dr. Despotovic and is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Kinase Deficiency. Her top areas of expertise are Immune Thrombocytopenic Purpura (ITP), Blood Clots, Pyruvate Kinase Deficiency, Evans Syndrome, and Splenectomy. Dr. Despotovic is currently accepting new patients.
Matthew Porteus is a Pediatric Hematologist Oncology specialist and a Hematologist in Dallas, Texas. Dr. Porteus and is rated as an Advanced provider by MediFind in the treatment of Pyruvate Kinase Deficiency. His top areas of expertise are Hemoglobinopathy, Sickle Cell Disease, Anemia, Severe Combined Immunodeficiency (SCID), and Bone Marrow Transplant.
More information and support for people with PKD condition and their families can be found at:
- National Library of Medicine - MedlinePlus -- medlineplus.gov/genetics/condition/pyruvate-kinase-deficiency/
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/pyruvate-kinase-deficiency/
- NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/7514/pyruvate-kinase-deficiency
The outcome varies. Some people have few or no symptoms. Others have severe symptoms. Treatment can usually make symptoms less severe.
Gallstones are a common problem. They are made of too much bilirubin, which is produced during hemolytic anemia. Severe pneumococcal disease is a possible complication after splenectomy.
See your provider if:
- You have jaundice or anemia.
- You have a family history of this disorder and are planning to have children. Genetic counseling can help you know how likely it will be that your child would have PKD. You can also learn about tests that check for genetic disorders, such as PKD, so that you can decide if you'd like to have these tests.
Summary: This study is an observational (ie, noninterventional), longitudinal, multicenter, global registry for patients with pyruvate kinase (PK) deficiency, a rare nonspherocytic hemolytic anemia. This Registry will be open for enrollment for 7 years and all enrolled participants will be followed prospectively for a minimum of 2 years, and up to 9 years. Data will be collected from participating Registry...
Summary: This cross-sectional prevalence assessment study involves a single blood draw in specific patient populations to assess for enzymatic and genomic evidence for acquired pyruvate kinase deficiency.
Published Date: December 31, 2023
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Gallagher PG. Hemolytic anemias: red blood cell membrane and metabolic defects. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 147.
Remiker AS, Brandow AM. Enzymatic defects. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 512.