Pyruvate kinase deficiency
Please note that the links contained on this search results page may take you
to sites outside of the NIH. (See Disclaimer under Site Policies for details.)
Pyruvate kinase deficiency is a condition caused by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). [1] Pyruvate kinase deficiency is cause by a mutation or alteration in a gene called PKLR located on chromosome 1. [2] Symptoms of pyruvate kinase deficiency develop if an individual receives two altered copies of the PKLR gene, one from each parent. This is called autosomal recessive inheritance. Pyruvate kinase deficiency may produce mild or severe hemolysis (red cell breakdown) and anemia. Problems may first appear in the newborn as prolonged jaundice and anemia. Older children may be pale (due to anemia), and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood.[1]
References
-
Chad Haldeman-Englert, MD . Pyruvate kinase deficiency. MedlinePlus Encyclopedia. 05/15/2008 Available at: http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm. Accessed January 14, 2009.
-
Zanella, A. et.al.. Pyruvate kinase deficiency: The genotype-phenotype association. Blood Reviews. 2007.
For more information about Pyruvate kinase deficiency click on the boxes below:
Click arrows to expand or collapse a Resource Section.
Show All Resources
Hide All Resources
- More Information (Found: 5 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
-
MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
-
eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
-
The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pyruvate kinase deficiency. Click on the link to go to OMIM and review these resources.
-
PubMed lists journal articles that discuss Pyruvate kinase deficiency. Click on the link to go to PubMed and review citations to these articles.
- Selected Full-Text Journal Articles
- Support Groups (Found: 6 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
- Live Chat
-
The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
-
RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Research & Clinical Trials (Found: 1 Resources)
Resources where you may find research studies and clinical trials
-
ClinicalTrials.gov lists trials that are studying or have studied Pyruvate kinase deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Services (Found: 2 Resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Testing
-
GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
- Genetic Services
-
We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
* GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
- More Search Tools (Found: 1 Resources)
Resources to help you find more information on this topic
-
The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.