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 (Cathelineauet al., 1972; Briandet 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.
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Kodama, H., Nagayama, H., Shimoizumi, H. et al. Immunochemical study of ornithine transcarbamylase deficiency. J Inherit Metab Dis 7, 131–132 (1984). https://doi.org/10.1007/BF01801772
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DOI: https://doi.org/10.1007/BF01801772