Rare Rheumatology News

Disease Profile

Lactate dehydrogenase B deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

E74.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Lactate dehydrogenase deficiency type B; LDH deficiency B; LDHBD

Summary

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]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Reduced lactate dehydrogenase B level
0045041

Diagnosis

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.

Testing Resources

  • 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.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • 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
      • Genetics Home Reference (GHR) contains information on Lactate dehydrogenase B deficiency. This website is maintained by the National Library of Medicine.

        In-Depth Information

        • 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. 

          References

          1. Lactate dehydrogenase deficiency. Genetics Home Reference. February 2012; https://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency.
          2. Carol A. Bocchini. LACTATE DEHYDROGENASE B DEFICIENCY; LDHBD. OMIM. July 27, 2011; https://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.

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