Original Article | Published:

Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information

Journal of Human Genetics volume 51, pages 204208 (2006) | Download Citation


One-fifth of the gene mutations causing ornithine transcarbamylase deficiency cannot be detected. In such cases carrier risk estimation must refer to biochemical data'such as increased plasma glutamine concentration or increased orotidine excretion after allopurinol load —although these parameters do not yield a definite diagnosis. Here, I derive odds for carrier risk estimation from published data, i.e. from mean and standard deviation of glutamine concentrations in carriers and noncarriers, assuming normal distributions, and from allopurinol test results in individual carriers and noncarriers using logistic regression. I show how such biochemical information may be combined with genetic information, thus demonstrating the usefulness of biochemical data. The necessity to assess individual results in larger proband groups and to consider possible correlations between different parameters is indicated.

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  1. Institute of Clinical Genetics, Medical Faculty “Carl Gustav Carus”, Dresden University of Technology, Fetscherstrasse 74, 01307 Dresden, Germany

    • Konrad Oexle


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Correspondence to Konrad Oexle.

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