PMID: 3753755Jan 1, 1986Paper

Isovaleryl-CoA dehydrogenase activity in isovaleric acidemia fibroblasts using an improved tritium release assay

Pediatric Research
D B Hyman, K Tanaka

Abstract

Isovaleric acidemia is a disorder of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase. At least two clinical subgroups of patients exist: a severe form, in which symptoms occur within the 1st wk of life, and a milder variant in which manifestations develop later in life. We developed a modified version of the tritium release assay to accurately measure residual isovaleryl-CoA dehydrogenase activity in fibroblasts from patients with both forms of isovaleric acidemia. In the modified assay, specific isovaleryl-CoA dehydrogenase-catalyzed tritium release from [2,3-3H]isovaleryl-CoA was determined by including an inhibitor of isovaleryl-CoA dehydrogenase, (methylenecyclopropyl)acetyl-CoA, in one of the tubes in paired assays, to determine the nonspecifically released 3H2O. Residual activities of the nine isovaleric acidemia lines tested ranged from 0 to 0.67 pmol 3H2O/min/mg protein (controls 19.4 +/- 8.0). The three lines from mildly affected individuals all had no detectable activity, whereas the severe cases had a mean of 0.41 pmol 3H2O/min/mg protein. Normal human fibroblast isovaleryl-CoA dehydrogenase had a Km for isovaleryl-CoA of 22 microM, with a Vmax of 51 pmol 3H2O/min/mg protein. The Ki of isova...Continue Reading

Citations

Apr 19, 1990·Biochimica Et Biophysica Acta·Y Ikeda, K Tanaka
Aug 13, 2003·Southern Medical Journal·Jeffrey A Feinstein, Kevin O'Brien
May 1, 2007·Proceedings of the Japan Academy. Series B, Physical and Biological Sciences·Yousuke Seyama, Yasunobu Uchijima
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