Rare Rheumatology News

Disease Profile

Lactate dehydrogenase A 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

Childhood

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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.

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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 A; Glycogen Storage Disease XI

Categories

Metabolic disorders

Summary

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]

Treatment

For many people with metabolic muscle diseases, the only treatment needed is to understand what activities and situations tend to trigger attacks of rhabdomyolysis. In addition, some people with metabolic disorders have benefited from dietary changes. For instance, there is evidence that those with carbohydrate-processing problems may be helped by a highprotein diet, while those with difficulty processing fats may do well on a diet high in carbohydrates and low in fat.[2]

We encourage you to consult with your healthcare provider for more information about management of lactate dehydrogenase A deficiency. A professional staff member through a Muscular Dystrophy Association (MDA) clinic can also help you design a specific plan suited for your metabolic disorder and individual needs.

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 A 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. 
      • 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.

        References

        1. Lactate dehydrogenase deficiency. Genetics Home Reference. February 2012; https://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency.
        2. Metabolic Diseases of Muscle. Muscular Dystrophy Association (MDA). 2016; https://www.mda.org/disease/metabolic-diseases-of-muscle.

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