Synonyms: Pyruvate kinase deficiency of erythrocytes
A rare genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2026
Newly diagnosed with
Hemolytic anemia due to red cell pyruvate kinase deficiency?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Pyruvate Kinase Deficiency Foundation
Enhancing the quality of life for patients with PKD and their families by providing awareness, expanding education and promoting advocacy.
Thrive with Pyruvate Kinase Deficiency Organization
Our mission is to connect the Pyruvate Kinase Deficiency community through support, increased social awareness, and advocacy.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.