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Diseases

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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Tests & Diagnosis

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How is lactate dehydrogenase B deficiency diagnosed?

Lactate dehydrogenase B deficiency (LDHBD) is typically diagnosed after routine blood tests show reduced lactate dehydrogenase (LDH) activity in serum and/or red blood cells.[1] A person has LDHBD when more specific testing shows absent or decreased levels of the LDH sub-unit H(B). This means that people with LDHBD may have either complete absence of this sub-unit, or a marked deficiency of the sub-unit.[2]

We are not aware of guidelines outlining the specific levels of LDH or the sub-unit considered diagnostic for LDHBD. In one article, the levels of serum LDH that were reported in affected people ranged from 33 to 89 units per liter (U/L), with a normal range being considered 290-540 U/L.[3] However, normal value ranges often vary among different laboratories, and some labs use different measurements or test different types of samples. Therefore, people should speak with their health care provider about the meaning of their specific results.
Last updated: 12/16/2014

References
  1. Lactate dehydrogenase deficiency. Genetics Home Reference. February 2012; http://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency.
  2. Carol A. Bocchini. LACTATE DEHYDROGENASE B DEFICIENCY; LDHBD. OMIM. July 27, 2011; http://omim.org/entry/614128. Accessed 12/16/2014.
  3. Sudo K, Maekawa M, Houki N, Okuda T, Akizuki S, Magara T, Kawano K. A novel in-frame deletion mutation in a case of lactate dehydrogenase (LD) H subunit deficiency showing an atypical LD isoenzyme pattern in serum and erythrocytes. Clin Biochem. March, 1999; 32(2):137-141.
  4. William J Craigen and Basil T Darras. Lactate dehydrogenase deficiency. UpToDate. Waltham, MA: UpToDate; October 8, 2014; Accessed 12/16/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.