Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.

@article{Lamon1979FamilyEI,
  title={Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.},
  author={Joel M. Lamon and B C Frykholm and Donald P. Tschudy},
  journal={Journal of medical genetics},
  year={1979},
  volume={16 2},
  pages={134-9}
}
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 ascertainment rate of latent AIP (that is, chemically manifest but clinically asymptomatic) was examined in 185 individuals from 12 AIP kindreds… CONTINUE READING
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