Abstract
Acute intermittent porphyria (AIP) is a genetic liver disease that is characterized clinically by a disabling neurological-visceral symptom complex and biochemically by the excessive urinary excretion of the porphyrin precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG). Two enzymic abnormalities of the heme pathway have been described in the livers of clinically manifest AIP patients1,2,3 as well as an additional defect in the biotransformation of endogenous steroid hormones.4
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References
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Sassa, S., Zalar, G.L., Kappas, A. (1978). Induction of Uroporphyrinogen-I Synthase Activity in Mitogen-Stimulated Lymphocytes: Deficient Induction in Acute Intermittent Porphyria Cells. In: Murphy, M.J., Peschle, C., Gordon, A.S., Mirand, E.A. (eds) In Vitro Aspects of Erythropoiesis. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-6301-2_25
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DOI: https://doi.org/10.1007/978-1-4612-6301-2_25
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