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Genetic and Rare Diseases Information Center (GARD)

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Lactate dehydrogenase B deficiency


Other Names for this Disease

  • Lactate dehydrogenase deficiency type B
  • LDH deficiency B
  • LDHBD
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Overview

Lactate dehydrogenase B deficiency (LDHBD) is a condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.[1]
Last updated: 12/16/2014

References

  1. Lactate dehydrogenase deficiency. Genetics Home Reference. February 2012; http://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Lactate dehydrogenase B 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

  • 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.¬†
Other Names for this Disease
  • Lactate dehydrogenase deficiency type B
  • LDH deficiency B
  • LDHBD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.