GTR Home > Conditions/Phenotypes > Isovaleryl-CoA dehydrogenase deficiency


Isovaleric acidemia is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase. It can present with severe neonatal ketoacidosis leading to death, but in milder cases recurrent episodes of ketoacidosis of varying degree occur later in infancy and childhood (summary by Vockley et al., 1991). [from OMIM]

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  • Also known as: ACAD2, IVD
    Summary: isovaleryl-CoA dehydrogenase

Clinical features


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