Diagnosing PK Deficiency
Taking Action for Your Health

Getting an accurate diagnosis of PK deficiency is the first step in the journey ahead. Some people with PK deficiency get diagnosed in their early years of life as infants or children, while others – particularly adults and patients with milder disease – can remain undiagnosed for years. If you think you may have PK deficiency, particularly if you have hemolytic anemia with unknown cause, talk with your doctor about getting tested.

Blood assay test for Pyruvate Kinase enzyme, and Genetic Test for abnormal PK gene.
Both of these blood tests usually take a couple of weeks for the results.
Your doctor will receive the results and will explain them to you.
What Are the tests for PK Deficiency
Blood assay test for Pyruvate Kinase enzyme, and Genetic Test for abnormal PK gene.
Both of these tests usually take a couple of weeks for the results. Your doctor will receive the results and will explain them to you.
View document download
Talking With Your Doctor
PK deficiency is rare and not all doctors will have cared for a patient with this condition. Below are two downloadable resources that you can share with your doctor.
Download a sheet to share with your doctor that discusses PK deficiency, including the signs and symptoms, how to test for it, and how it is currently managed.
Download Now
Download a sheet to share with your doctor that discusses when to suspect PK deficiency and includes laboratories that perform testing for PK deficiency.
Download Now
Personal Perspective
Physician Perspective

Kelsi talks about her experience living with PK deficiency.

Dr. Richard van Wijk talks about PK deficiency.

Personal Perspective

Kelsi talks about her experience living with PK deficiency.

Physician Perspective

Dr. Richard van Wijk talks about PK deficiency.

Learn more about clinical studies
on the PK deficiency Studies page.
Learn more about available
resources on the Resources page.
Learn more about clinical studies
on the PK Deficiency Studies page.
Learn more about available
resources on the Resources page.

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