What is 2-methylbutyryl-coenzyme A dehydrogenase deficiency?
2-methylbutyryl-coenzyme A dehydrogenase deficiency is a type of organic acid disorder in which the body is unable to process proteins properly. Organic acid disorders lead to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with 2-methylbutyryl-coenzyme A dehydrogenase deficiency have inadequate levels of an enzyme that helps process a particular amino acid called isoleucine. Health problems related to 2-methylbutyryl-coenzyme A dehydrogenase deficiency vary widely from severe and life-threatening to mild or absent. Signs and symptoms of this disorder can begin a few days after birth or later in childhood. The initial symptoms often include
