Immunochemical study of ornithine transcarbamylase deficiency

Abstract

Abstract Deficiency of ornithine transcarbamylase (OTC, EC 2.1.3.3) (McKusick 31125), a mitochondrial enzyme of the urea cycle, appears to be one of the most frequent causes of inherited ammonia intoxication, and evidence indicates that the enzyme is X‐linked. Recently, different kinds of mutation have been reported (Cathelineau et al. , 1972; Briand et al. , 1982). We carried out detailed studies on the molecular properties of the enzyme from two heterozygous females, using an antibody to bovine OTC which cross‐reacted with the human enzyme.