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A hereditary, underlying cause of hemolytic anemia which results from a deficiency of the enzyme pyruvate kinase (PK).
Presentation is highly variable, ranging from mild to life-threatening, with severe debilitating co-morbidities
The disease may be under-recognized, particularly in adults and patients on the milder end of the spectrum of disease severity.
PK deficiency is uncommon but support is available.
PK deficiency may be under-recognized and can be misdiagnosed.
The many medical conditions that result from having PK deficiency, and sometimes even the treatments to manage those conditions, can have an impact on how patients and families function each day.
Disease MechanismPyruvate kinase is critical for maintaining red blood cell energy levels. View a video on the disease mechanism.
PK Deficiency in Your PracticePatient presentation is highly variable, ranging from mild to life-threatening, with severe debilitating co-morbidities, which can significantly affect daily life.
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