HIBCH
MIM.610690 2q32.2
Beta-hydroxyisobutyryl-CoA hydrolase (EC 3.1.2.4) is responsible for the specific hydrolysis of HIBYL-CoA, a valine catabolite, as well as the hydrolysis of beta-hydroxypropionyl-CoA, an intermediate in a minor pathway of propionate metabolism.
Pathology
3-hydroxyisobutyryl-CoA hydrolase deficiency (MIM.250620) with progressive infantile neurodegeneration and structural abnormalities of the brain and heart.
References
Brown, G. K.; Hunt, S. M.; Scholem, R.; Fowler, K.; Grimes, A.; Mercer, J. F. B.; Truscott, R. M.; Cotton, R. G. H.; Rogers, J. G.; Danks, D. M. :
Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. Pediatrics 70: 532-538, 1982. PubMed ID : #7122152#
Loupatty, F. J.; Clayton, P. T.; Ruiter, J. P. N.; Ofman, R.; IJlst, L.; Brown, G. K.; Thorburn, D. R.; Harris, R. A.; Duran, M.; DeSousa, C.; Krywawych, S.; Heales, S. J. R.; Wanders, R. J. A. : Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. Am. J. Hum. Genet. 80: 195-199, 2007. PubMed ID : #17160907#