International Guidelines for the Diagnosis and Management of Pyruvate Kinase Deficiency
Living With PKD
People living with PK deficiency, their caregivers and families report that living with PK deficiency negatively impacts the person with PKD’s quality of life including their physical, emotional, and functional well-being. Improved resources are needed to support the PK deficiency community, with a need for better understanding of how the disease-related physical and psychosocial experiences change over the course of the affected person’s lifetime.
Diagnosis and Genetics of PK Deficiency
Understanding Pyruvate Kinase Deficiency
Pyruvate kinase deficiency (also called PK deficiency or PKD) is a red blood disease that affects people whose bodies don’t make enough of the enzyme pyruvate kinase. People with this rare blood condition are often born with it, inheriting a damaged gene from each of their parents in an autosomal recessive pattern. It is classified as a rare, inherited anemia and causes iron overload that can cause long-term damage to the body.
It is estimated that PK deficiency affects 1 in 100,000 to 1 in 300,000 people worldwide and is pan-ethnic.