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Lactate dehydrogenase A deficiency
Other Names for this Disease
- Glycogen Storage Disease XI
- Lactate dehydrogenase deficiency type A
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rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.Lactate dehydrogenase A deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. People with this condition experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (
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.
- Genetics Home Reference (GHR) contains information on Lactate dehydrogenase A 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 A deficiency. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Lactate dehydrogenase A deficiency. Click on the link to view a sample search on this topic.