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:
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.
Rachael Grace is a Pediatric Hematologist Oncology specialist and a Pediatrics doctor in Waltham, Massachusetts. Dr. Grace has been practicing medicine for over 19 years and is rated as an Elite doctor by MediFind in the treatment of Pyruvate Kinase Deficiency. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Pyruvate Kinase Deficiency, Immune Thrombocytopenia, Hemolytic Anemia, and Anemia. She is licensed to treat patients in Massachusetts. Dr. Grace is currently accepting new patients.
Bertil Glader is a Pediatric Hematologist Oncology doctor in Palo Alto, California. Dr. Glader is rated as an Elite doctor by MediFind in the treatment of Pyruvate Kinase Deficiency. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Pyruvate Kinase Deficiency, Aase Syndrome, Pure Red Cell Aplasia, and Anemia. He is licensed to treat patients in California. Dr. Glader is currently accepting new patients.
Eduard Van Beers is in Utrecht, Netherlands. Van Beers is rated as an Elite expert by MediFind in the treatment of Pyruvate Kinase Deficiency. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Pyruvate Kinase Deficiency, Hemolytic Anemia, Anemia, and Congenital Hemolytic Anemia.
More information and support for people with PKD condition and their families can be found at:
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:
Published Date: November 01, 2021
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 Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Brandow AM. Pyruvate kinase deficiency. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 490.
Gallagher PG. Hemolytic anemias: red blood cell membrane and metabolic defects. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 152.