Manawadu, T. V.; Jasinge, E.; Fernando, M.; Gamage, P.; Gunarathne, A.V.
(Springer, 2020)
ABSTRACT:Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is a rare genetic disorder of ketone utilization and isoleucine catabolism caused by mutations in the ACAT1 gene. Here we report the first ...