2 methylbutyryl coa dehydrogenase deficiency

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2 methylbutyryl coa dehydrogenase deficiency - a rare autosomal recessive inherited disorder caused by mutations in the acadsb gene. It is characterized by deficiency of the enzyme 2 methylbutyryl coa dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma.

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on 2 methylbutyryl coa dehydrogenase deficiency for any updates.

 

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