Methylmalonicaciduria due to methylmalonic CoA mutase deficiency
Definition
Methylmalonicaciduria results from an autosomal recessive inherited genetic defect in methylmalonic CoA mutase (MCM), an enzyme required for the proper metabolism of some protein components, cholesterol, and fatty acids. As a result of a deficiency in MCM, methylmalonic acid accumulates in the bloodstream and urine, causing a severe metabolic disorder that may lead to death. Treatment consists chiefly of diet modification and the administration of several medications that may counteract this process.
Description
Proteins are important building blocks of the body, serving many different functions. They provide the structure of muscles, tissues, and organs, and regulate many functions of the human body. Proteins are made from amino acids obtained through the digestion of proteins...
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