Lactate dehydrogenase A deficiency
Other Names for this Disease
- Lactate dehydrogenase deficiency type A
- Glycogen Storage Disease XI
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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. February 2012; http://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency.
- 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 was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- 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.