This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent. Signs and symptoms of the disorder can begin a few days after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy, vomiting, and irritability. These symptoms sometimes progress to serious medical problems such as difficulty breathing, seizures, and coma.[ This condition is caused by mutations in the ACADSB gene. It is inherited in an autosomal recessive pattern. Treatment, when needed, includes a low-protein diet, specialty formulas, foods and supplements, and careful observation if illness occurs.
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