Summary
The biochemical and the molecular diagnoses of an inherited porphyria require experience. False positive or negative screening tests and the low penetrance of the disease make a correct diagnosis difficult.The biochemical and the molecular procedures for the diagnosis of acute intermittent porphyria were applied to five unrelated patients suffering from acute intermittent porphyria. All patients were shown to be gene carriers of acute intermittent porphyria by both methods. The two different possibilities of the diagnosis corresponded well. In a family definitively identified by molecular diagnosis of one of the patients and his relatives, the patient’s two children were asymptomatic. His son was shown to be a gene carrier of the father’s deficiency by biochemical as well as molecular analysis, whereas his daughter was not affected by acute intermittent porphyria.
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Communicating editor: Georg Hoffmann
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Groß, U., Puy, H., Jacob, K. et al. Biochemical compared to molecular diagnosis in acute intermittent porphyria. J Inherit Metab Dis 29, 157–161 (2006). https://doi.org/10.1007/s10545-006-0155-9
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DOI: https://doi.org/10.1007/s10545-006-0155-9