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Pyruvate Kinase Deficiency
Important
It is possible that the main title of the report Pyruvate Kinase Deficiencyis not the name you expected.
Synonyms
- Nonspherocytic Hemolytic Anemia, Congenital with low PK Kinetics
Disorder Subdivisions
- None
General Discussion
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.)
Resources
Lactic Acidosis Support Trust
1A Whitley Close
Middlewich
Cheshire
CW10 0NQ
United Kingdom
Tel: 0160683719
Fax: 01606837198NIH/National Heart, Lung and Blood Institute
31 Center Drive MSC 2480
Building 31A Rm 4A16
Bethesda
MD
20892-2480
Tel: (301)592-8573
Fax: (240)629-3246
nhlbiinfo@rover.nhlbi.nih.gov
http://www.nhlbi.nih.gov/
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg
MD
20898-8126
Tel: (301)519-3194
Fax: (240)632-9164
800: (888)205-2311
TDD: (888)205-3223
gardinfo@nih.gov
http://www.genome.gov/10000409
For a Complete Report:
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 3/31/2008
Copyright 1987, 1988, 1990, 1998, 2005 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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