Pyruvate Kinase Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Pyruvate Kinase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Red cell pyruvate kinase deficiency is a hereditary blood disorder characterized by a deficiency of the enzyme pyruvate kinase. Physical findings associated with the disorder may include reduced levels of oxygen-carrying hemoglobulin in the blood due to premature destruction of red blood cells (hemolytic anemia); abnormally increased levels of bilirubin in the blood (hyperbilirubinemia); abnormal enlargement of the spleen (splenomegaly); and/or other abnormalities. Pyruvate kinase deficiency is inherited as an autosomal recessive genetic trait. It is one of a group of diseases known as hereditary nonspherocytic hemolytic anemias. (Nonspherocytic refers to the fact that the red blood cells do not assume a spherical shape, as they do with some blood disorders.
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Lactic Acidosis Support Trust
- 1A Whitley Close
- Cheshire, CW10 0NQ
- United Kingdom
- Tel: 160683719
- Fax: 1606837198
Pyruvate Kinase Deficiency Group
- Email: firstname.lastname@example.org
- Website: http://www.pyruvatekinasedeficiency.com
For a Complete Report
Last Updated: 12/23/1969
Copyright 2005 National Organization for Rare Disorders, Inc.