PRENATAL-DIAGNOSIS OF SUCCINYL-COENZYME A-3-KETOACID COENZYME-A TRANSFERASE DEFICIENCY

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare di sorder of ketone body catabolism. In the present study, we prenatally diagnosed SCOT deficiency in a fetus in a family of which the proband was the first patient with SCOT deficiency identified in Japan, by ana lysis of enzyme activity levels in samples of chorionic villi and cult ured amniocytes. In the fetus of the family, SCOT activity was not det ected in either chorionic villi or cultured amniocytes. Since the leve ls of SCOT activity in control chorionic villi were close to our minim al detectable level and were much lower than those in control cultured amniocytes, enzyme assay in cultured amniocytes was more feasible tha n that in chorionic villi for prenatal diagnosis of SCOT deficiency. N o elevated accumulation of 3-hydroxybutyrate or acetoacetate was detec ted in the amniotic fluid of the fetus. To our knowledge, this report is the first of prenatal diagnosis of SCOT deficiency.