MILD FORM OF BETA-KETOTHIOLASE DEFICIENCY (MITOCHONDRIAL ACETOACETYL-COA THIOLASE DEFICIENCY) IN 2 JAPANESE SIBLINGS - IDENTIFICATION OF DETECTABLE RESIDUAL ACTIVITY AND CROSS-REACTIVE MATERIAL IN EB-TRANSFORMED LYMPHOCYTES

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inherited metabolic disorder of isoleucine and ketone body catabolism. We repor t the cases of two siblings who showed clinically mild forms of this d isorder. They did not excrete tiglylglycine in urine. Their EB-transfo rmed lymphocytes contained residual T2 activity, which was confirmed b y immunotitration analysis. In immunoblot analysis, the bands correspo nding to T2 in the samples of the cell lines from two patients were th e most intensely detected among those from 19 T2-deficient cell lines tested