Confirming Pyruvate Kinase (PK) deficiency diagnosis
Diagnosing PK Deficiency

PK deficiency is underrecognized and often misdiagnosed.1

PK deficiency should be considered in patients with hemolysis but who lack evidence of acquired autoimmune disorder or other signs of an inherited hemolytic anemia (RBC membrane disorder or hemoglobinopathy).1

When to Suspect PK Deficiency

Hemolytic
Anemia?

Yes

Findings suggestive of an acquired autoimmune process, red cell membrane defect, or hemoglobinopathy?

No

Test for PK Deficiency via enzyme assay or genetic testing

When determining differential diagnosis, consider the following:4-5

Acquired Hemolytic Anemia

  • Autoimmune hemolytic anemias
  • Paroxysmal nocturnal hemoglobinuria

Hereditary Hemolytic Anemia

  • Inherited disorders of RBC cell membranes, such as hereditary spherocytosis and hereditary elliptocytosis
  • Inherited disorders of RBC enzymes, such as glucose-6-phosphate dehydrogenase deficiency
  • Hemoglobinopathies, such as thalassemias

Testing Program for PK Deficiency

Agios is sponsoring third-party diagnostic testing for PK deficiency. If you think you may have a patient, test to know.

Here's How the Program Works:

Step 1

Download and complete the Test Request materials

Step 2

Collect sample per the Test Request Form instructions

Step 3

Send the sample to the participating lab

Please refer to the respective test request and specimen handling forms for each participating institution to place an order. The Test Request Form (TRF) for each participating institution contains laboratory-specific specimen requirements and shipping information.

To request further information, email us at KnowPKdeficiency@agios.com

Privacy and the Program

While Agios provides financial support for this program, all tests and services are performed by the selected third-party. Agios receives contact information for healthcare professionals who submit tests under this program and limited de-identified aggregate data.
Additional laboratories may also offer PK deficiency testing.
for more information, visit www.genetest.org or www.orpha.net.

Learn more about the PK Deficiency Testing Program.

Consensus recommendations on the diagnosis of PK deficiency have been published, and evaluate multiple aspects of the diagnosis.

Go to PubMed
Click to view doctor's video on PK deficiency
Click to view doctor's video on PK deficiency
Hear from
Dr. Richard van Wijk
Diagnostic
Information
Dr. van Wijk talks about his experience diagnosing PK deficiency.
Download an information sheet on identifying and diagnosing PK deficiency, including a listing of labs in the US who offer testing.
Click to view doctor's video on PK deficiency
Hear from Dr. Richard van Wijk
Dr. van Wijk talks about his experience diagnosing PK deficiency.
Click to view doctor's video on PK deficiency
Diagnostic Information
Download an information sheet on identifying and diagnosing PK deficiency, including a listing of labs in the US who offer testing.
References
  1. Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B. Erythrocyte Pyruvate Kinase Deficiency: 2015 Status Report. Am J Hematol. 2015;90(9):825-30.
  2. Hirono A, Kanno H, Miwa S, Beutler E. Chapter 182: Pyruvate Kinase deficiency and Other Enzymopathies of the Erythrocyte. Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2014. http:// ommbid.mhmedical.com/content.aspx?sectionid=62652268&bookid=971&Resultclick=2. Accessed October 21, 2016.
  3. Zanella A, Fermo E, Bianchi P, Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br J Haematol 2005;130(1):11-25.
  4. Gallagher PG and Glader B. Diagnosis of pyruvate kinase deficiency. Pediatr Blood Cancer 2016:63(5):771-772.
  5. Posencheg MA, Dennery PA. In: Bope ET, Kellerman RD, Rakel RE, eds. Conn’s Current Therapy 2011: Expert Consult. Philadelphia, PA: Elsevier Health Sciences; 2010:424-427.

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