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SUMMARY Acute intermittent porphyria (AIP) is a primary disorder of haem biosynthesis that is chemically characterised by raised urinary porphobilinogen (PBG). A defect in the biochemical pathway at the step of PBG conversion to uroporphyrinogen has been shown to be a result of a partial deficiency of the enzyme uroporphyrinogen I synthetase (uro I syn). The (Strand et al., 1970), fibroblasts (Bonkowsky et al., 1975), lymphocytes (Sassa et al., 1977), and peripheral red cells (Magnussen et al., 1974) from patients with AIP.Evaluation of blood relatives of clinically affected AIP individuals using the red cell uro I syn assay revealed a higher rate of latent AIP than would have IPresented in part at the annual meeting of the American Society of Human Genetics, October 1977. Received for publication 19 July 1978 been found using urinary PBG measurement alone. It was the purpose of this study to assess the efficacy of these two diagnostic tests for the identification of latent AIP in an affected kindred. Magnussen et al. (1974). Though an approximate 50 % reduction in the uro I syn 134 on 9 May 2018 by guest. Protected by copyright. Methods

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