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Lactate dehydrogenase deficiency
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lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency. People with lactate dehydrogenase A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). People with lactate dehydrogenase B deficiency typically do not have symptoms. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. Lactate dehydrogenase B deficiency is caused by mutations in the LDHB gene. Both types are inherited in an autosomal recessive pattern.Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency:
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 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 deficiency. Click on the link to go to OMIM and review these resources.