M. Castorina, D. Rigante, D. Antuzzi
Jan 1, 2008
Citations
0
Influential Citations
4
Citations
Journal
Scandinavian Journal of Gastroenterology
Abstract
TO THE EDITOR: Isovaleric acidemia (IVA) is an inborn error of leucine catabolism caused by the deficiency of isovaleryl-CoA dehydrogenase, characterized by the storage of isovaleric acid and its derivatives which exert multiple toxic effects [1]. The neonatal onset of the disease might be dramatically severe due to overwhelming hyperammonemia, but sometimes diagnosis can be disclosed later for recurrent episodes of ketoacidosis [2,3]. Treatment with a protein-restricted diet and supplementation with glycine and L-carnitine, which confers non-toxic removal of isovaleryl-CoA, is generally effective in promoting normal growth and development [4], though the clinical outcome might be different.