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Genetic and Rare Diseases Information Center (GARD)

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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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Overview

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 (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.[1]
Last updated: 12/27/2012

References

  1. 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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Basic Information

  • 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.
    Lactate dehydrogenase
    LDH isoenzymes

In Depth Information

  • The 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.
Other Names for this Disease
  • Glycogen Storage Disease XI
  • Lactate dehydrogenase deficiency type A
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.