Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.
Mutations in the LDHA gene cause lactate dehydrogenase-A deficiency, and mutations in the LDHB gene cause lactate dehydrogenase-B deficiency. These genes provide instructions for making the lactate dehydrogenase-A and lactate dehydrogenase-B pieces (subunits) of the lactate dehydrogenase enzyme. This enzyme is found throughout the body and is important for creating energy for cells. There are five different forms of this enzyme, each made up of four protein subunits. Various combinations of the lactate dehydrogenase-A and lactate dehydrogenase-B subunits make up the different forms of the enzyme.
Lactate dehydrogenase deficiency is a rare disorder. In Japan, this condition affects 1 in 1 million individuals; the prevalence of lactate dehydrogenase deficiency in other countries is unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. 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.
Pankaj Seth is in Gurgaon, India. Seth is rated as a Distinguished expert by MediFind in the treatment of Lactate Dehydrogenase Deficiency. They are also highly rated in 1 other condition, according to our data. Their top areas of expertise are Lactate Dehydrogenase Deficiency, Pyruvate Dehydrogenase Deficiency, HIV/AIDS, and AIDS Dementia Complex.
Alexandra Giatromanolaki is in Alexandroupoli, Greece. Giatromanolaki is rated as a Distinguished expert by MediFind in the treatment of Lactate Dehydrogenase Deficiency. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Lactate Dehydrogenase Deficiency, Cerebral Hypoxia, Lung Cancer, and Non-Small Cell Lung Cancer.
Masato Maekawa is in Saitama, Japan. Maekawa is rated as a Distinguished expert by MediFind in the treatment of Lactate Dehydrogenase Deficiency. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Lactate Dehydrogenase Deficiency, Kimura Disease, Fifth Disease, and Rheumatoid Lung Disease.
Published Date:updated Last, February
Published By: National Institutes of Health
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