A NEW JAPANESE CASE OF SUCCINYL-COA - 3-KETOACID COA-TRANSFERASE DEFICIENCY

Succinyl-CoA:3-ketoacid CoA-transferase (SCOT; EC 2.8.3.5) deficiency (McKusick 245050) is a rare inherited metabolic disease. This enzyme is a key enzyme for utilization in peripheral tissues of ketone bodies that are produced by the liver. The absence of SCOT activity blocks peripheral ketone body utilization and causes recurrent attacks of severe ketoacidosis beginning in the neonatal or infantile period. Five cases of SCOT deficiency have been reported (Tildon and Cornblath 1972; Spence et al 1973; Middleton et al 1987; Saudubray et al 1987; Perez-Cerda et al 1992). The prognosis of these patients seems to parallel the severity of the SCOT deficiency. Here we report a new case of SCOT deficiency in Japan. We also report SCOT activity in the lymphocytes of the patient and his family.