Heterogenous Mutations of the Structural Gene of Human Ornithine Carbamyltransferase as Observed in Five Personal Cases

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Abstract
A kinetic study dealing with an enzyme deficiency was undertaken in five cases of hyperammonemia secondary to ornithine carbamyltransferase deficiency, and including the parents in three cases. The K(m) for the two substrates were determined in all cases. In three of them, there was an abnormal affinity for one of the substrates. In the two others, the affinities were normal, but different abnormal biochemical behaviors were noted. The examination of the parents revealed that the transmission of the trait was through the mothers.

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