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Updated: Aug 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Acute intermittent porphyria versus porphyria variegata: a diagnostic uncertainty (author's transl)]
Abstract:
The authors study a case of acute porphyria in a young woman who was taking oral contraceptives and who began having abdominal pain and bilateral radial paralysis with neuropsychic disorders. The quantitative and chromatographic analyses of urine, feces, and liver porphyrins revealed a pattern of excretion compatible but not definite of porphyria variegata, making this an example of porphyria of difficult noslogic placement. The problems of classification, the action of the contraceptive drugs as probable triggering agents (of the clinical picture) by means of their action on the ALA-synthetase, the rare form of neuropathy, and the rarity of these types of porphyrias in our country are analyzed and discussed. The patient did not present the endocrine-metabolic disorders that are commonly evidenced in these cases.

