People with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). High levels are your body’s alarm bell: they indicate something is not right. Muscle Nerve Suppl. Do you have updated information on this disease? The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Muscle Nerve. This article is specifically about the NAD(P)-dependent L-lactate dehydrogenase. Mutations in the LDHA gene result in the production of an abnormal lactate dehydrogenase-A subunit that cannot attach (bind) to other subunits to form the lactate dehydrogenase enzyme. As a result, glycogen is not broken down efficiently, leading to decreased energy in muscle cells. LDH can increase with exercise or due to conditions such as infections, anemia, liver disease, heart attack, muscle damage, and cancer. 1989 Dec 15;185(3):299-308. MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Maekawa M, Kanno T. Laboratory and clinical features of lactate dehydrogenase How can gene mutations affect health and development? reduced activity of muscle lactate dehydrogenase A. Arthritis Care Res (Hoboken). This test measures the level of LD in the blood or sometimes other body fluids. September 1, 2020, NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community A doctor recommends a blood test to determine the location and extent of tissue trauma. To use the sharing features on this page, please enable JavaScript. We want to hear from you. They may be able to refer you to someone they know through conferences or research efforts. Clin Chem. The version of lactate dehydrogenase made of four lactate dehydrogenase-B subunits is found primarily in heart (cardiac) muscle. Lactate Dehydrogenase Definition. 2011 Dec;63(12):1782-6. doi: 10.1002/acr.20584. The severity of the signs and symptoms among individuals with lactate dehydrogenase-A deficiency varies greatly. Besonders hoch ist die Konzentration in der Herz-und Skelettmuskulatur, in der Leber, in Erythrozyten und Thrombozyten. Die Lactatdehydrogenase kommt in allen Zellen des menschlichen Organismus vor. We want to hear from you. is updated regularly. In cardiac muscle, lactate dehydrogenase converts lactate to pyruvate, which can participate in other chemical reactions to create energy. The in-depth resources contain medical and scientific language that may be hard to understand. Some people with lactate dehydrogenase-A deficiency develop skin rashes. U.S. Department of Health and Human Services, lactate dehydrogenase subunit deficiencies. You may want to review these resources with a medical professional. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Genetics Home Reference has merged with MedlinePlus. It leaks into the blood when there’s tissue damage. Contact a GARD Information Specialist. http://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency. Lactate dehydrogenase (LD or LDH) is an enzyme involved in energy production that is found in almost all of the body's cells, with the highest levels found in the cells of the heart, liver, muscles, kidneys, lungs, and in blood cells; bacteria also produce LD. What does it mean if a disorder seems to run in my family? How are genetic conditions treated or managed? The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). mutations in two patients with deficiency of lactate dehydrogenase H(B) subunit. subunit deficiencies. Various combinations of the lactate dehydrogenase-A and lactate dehydrogenase-B subunits make up the different forms of the enzyme. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus.