Lactate dehydrogenase deficiency
Other Names for this Disease
- Glycogen storage disease due to lactate dehydrogenase deficiency
- Glycogenosis due to lactate dehydrogenase deficiency
- GSD due to lactate dehydrogenase deficiency
- LDH 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. February 2012; http://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency.
- 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 was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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