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Biochemical and Clinical Transitions Between the Hereditary Hepatic Porphyrias: New Concepts

  • M. Doss
  • R. v. Tiepermann

Abstract

Acute hepatic porphyrias are primarily molecular regulation diseases that are based on disturbances in porphyrin and heme biosynthesis (Fig. 1). Between the acute hepatic porphyrias — namely acute intermittent porphyria (AIP), porphyria variegata (PV), and hereditary coproporphyria (HCP) — there is an uninterrupted biochemical transition. Acute hepatic porphyrias have a series of common features, especially the sensitivity to lipid-soluble drugs, premenstrual manifestation, clinical syndrome with abdominal, cardiovascular, nervous and psychic symptoms, a similar constellation in the high urinary excretion of porphyrin precursors and porphyrins, and increased porphyrin excretion in feces in PV, in HCP, and in AIP. There is increased inducibility of 6-aminolevulinic acid (ALA) synthase in the Liver as a consequence of partial enzyme defects along the synthesis chain, of uroporphyrinogen synthase (uro-S) in AIP, of coproporphyrinogen oxidase in HCP, and probably of ferrochelatase or protoporphyrinogen oxidase in PV (Table 1). All respond to glucose, propranolol, and hematin therapy. They generally follow four phases: the phase of the genetic defect, the compensated and decompensated latent phase, and the clinical manifestation. From the clinical and biochemical point of view one can differentiate between a compensated and an uncompensated latent phase both in AIP and in PV (Table 2). AIP, PV, and HCP can appear with a syndrome clinically identical. In half of the cases of variegata we observed no skin symptoms.

Keywords

Acute Intermittent Porphyria High Urinary Excretion Hepatic Porphyria Variegate Porphyria Protoporphyrinogen Oxidase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Springer-Verlag Berlin Heidelberg 1978

Authors and Affiliations

  • M. Doss
    • 1
  • R. v. Tiepermann
    • 1
  1. 1.Clinical Biochemistry of the Faculty of MedicinePhilipp University of Marburg an der LahnGermany

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