Summary
The biochemical heterogeneity of ornithine carbamoyltransferase (OCT) was investigated in one male and three female patients with OCT deficienty. OCT from the male patient showed extremely low activity and no immunologically cross-reactive material (CRM) against antihuman liver OCT antibody. Residual OCT in two female patients was similar, being approximately 10% of the control with regard to both the activity and the amount of CRM. Their kinetic parameters were identical to those of the control. The enzyme activity and amount of CRM in the last female patient were 22.5% and 48.5% of the control, respectively. Thus, it is likely that gene mutation caused a reduction of enzyme protein or production of a distinctly unstable enzyme in the former three patients and a structural gene mutation produced a mutant OCT in the last patients.
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Matsuda, I., Nagata, N., Ohyanagi, K. et al. Biochemical heterogeneity of ornithine carbamoyl transferase(OCT) in patients with OCT deficiency. Jap J Human Genet 29, 327–333 (1984). https://doi.org/10.1007/BF01871248
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DOI: https://doi.org/10.1007/BF01871248
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