A neuropsychiatric and genetical investigation of acute intermittent porphyria / by Lennart Wetterberg.

  • Wetterberg, Lennart.
Date:
1967
Catalogue details

Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: A neuropsychiatric and genetical investigation of acute intermittent porphyria / by Lennart Wetterberg. Source: Wellcome Collection.

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    from PBG (Booij and Rimington 1957, Bogorad 1958 a, b, c, Bogorad and Marks I960). Uroporphyrinogen decarboxylase converts the uro¬ porphyrinogen to coproporphyrinogen which enters the mitochondria, where it is converted to protoporphyrin (Granick and Mauzerall 1958, Sano and Granick 1961, Porra and Falk 1961, 1964). This reaction may involve several steps. It is postulated that protoporphyrinogen is oxidized to protoporphyrin by protoporphyrinogen oxidase (Porra and Falk 1964). The incorporation of ferrous ions into protoporphyrin to form heme is facilitated by the enzyme heme synthetase or ferrochelatase (Goldberg et al. 1956, Goldberg 1959, Labbe 1959, Lockhead and Goldberg 1959, Labbe and Hubbard I960, Porra and Jones 1963 a, b). Classification of porphyrias The fact that the exact nature of the biochemical disturbance is still unknown makes classification of human porphyria difficult (Walden¬ strom and Haeger-Aronsen 1967). The porphyrias can, however, be divided into two main forms (Schmid et al. 1954), the erythropoietic and the hepatic porphyrias. In the erythropoietic group the porphyrins and porphyrin precursors are increased in the bone marrow, but in the hepatic form in the liver. The acute intermittent type of porphyria investigated in this study belongs to the hepatic porphyrias. A number of classifications have been proposed for the hepatic porphyrias, but none has been universally accepted. The classification proposed by Waldenstrom and the synonymous terminologies from other systems of classification are presented in Table 1. The opinions of the classification and nomenclature of the different porphyrias differ in particular with reference to the cutaneous manifestations {i.e. group II—IV in Table 1 ). The topic was discussed during a recent international conference on the porphyrias (Rimington 1963). Waldenstrom (1957) has pointed out that the term acute porphyria is misleading since the metabolic defect is chronic even if there are attacks of the acute type. Furthermore he suggested that the term por¬ phyria should be dropped in favor of pyrrolia since the disease is known to have a disturbance in pyrrol metabolism. In correspondence with the diagnosis porphyria cutanea tarda (PGT), the diagnosis of the acute hepatic form would be porphyria acuta inter- 11