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Lactate dehydrogenase B deficiency
Other Names for this Disease
- Lactate dehydrogenase deficiency type B
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LDHB gene. This condition is inherited in an autosomal recessive pattern.Lactate dehydrogenase B deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. People with this condition typically do not have any signs or symptoms of the condition. They do not have difficulty with physical activity or any specific physical features related to the condition. Affected individuals are usually discovered only when routine blood tests reveal reduced lactate dehydrogenase activity. Lactate dehydrogenase B deficiency is caused by mutations in the
Last updated: 12/27/2012
- Lactate dehydrogenase deficiency. Genetics Home Reference (GHR). February 2012; http://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency. Accessed 12/27/2012.
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- Genetics Home Reference (GHR) contains information on Lactate dehydrogenase B deficiency. This website is maintained by the National Library of Medicine.
- The Muscular Dystrophy Association (MDA) provides information about lactate dehydrogenase deficiency. Click on the link to access this information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about lactate dehydrogenase and LDH isoenzymes. Click on the links to view this information.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Lactate dehydrogenase B deficiency. Click on the link to go to OMIM and review these resources.