Learn About Pyruvate Kinase Deficiency

What is the definition of 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).

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What are the alternative names for Pyruvate Kinase Deficiency?

PK deficiency; PKD

What are the causes of Pyruvate Kinase Deficiency?

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.

What are the symptoms of Pyruvate Kinase Deficiency?

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
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What are the current treatments for Pyruvate Kinase Deficiency?

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.

Who are the top Pyruvate Kinase Deficiency Local Doctors?
Elite
Highly rated in
8
conditions
Pediatric Hematology Oncology
Pediatrics

Boston Children's At Waltham

9 Hope Ave 
Waltham, MA 2453

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.

Elite
Highly rated in
11
conditions
Pediatric Hematology Oncology

Stanford Childrens Health

Lucile Packard Childrens Hospital Stanford

725 Welch Rd 
Palo Alto, CA 94304

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.

 
 
 
 
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Elite
Highly rated in
13
conditions

University Medical Center Utrecht

Utrecht University 
Utrecht, UT, NL 

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.

What are the support groups for Pyruvate Kinase Deficiency?

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
What is the outlook (prognosis) for Pyruvate Kinase Deficiency?

The outcome varies. Some people have few or no symptoms. Others have severe symptoms. Treatment can usually make symptoms less severe.

What are the possible complications of Pyruvate Kinase Deficiency?

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.

When should I contact a medical professional for Pyruvate Kinase Deficiency?

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.
What are the latest Pyruvate Kinase Deficiency Clinical Trials?
Characterization Of Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms
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Gene Therapy for Pyruvate Kinase Deficiency (PKD): A Phase I Clinical Trial to Evaluate the Safety of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the Codon Optimized Red Cell Pyruvate Kinase (coRPK) Gene in Adult and Pediatric Subjects With PKD
What are the Latest Advances for Pyruvate Kinase Deficiency?
Mitapivat versus Placebo for Pyruvate Kinase Deficiency.
A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.
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Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.
Who are the sources who wrote this article ?

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.

What are the references for this article ?

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.