Abstract
Acute intermittent porphyria (AIP), an autosomal dominant disorder, is divided into two forms, the classical form (more than 95%) and the non-erythroid variant form, according to erythroid porphobilinogen deaminase (PBGD) activity. In the variant form, the PBGD activity is essentially normal. Detection of presymptomatic mutation carriers relies on a DNA test. This variant form of AIP is very rare, with only nine families carrying five different mutations reported in the literature. Here we report a novel G-to-T transversion in the first position of intron 1 of the PBGD gene in a family with this variant form of AIP. We also review all previously reported cases and propose an effective diagnostic approach.
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Received: June 26, 2000 / Accepted: August 16, 2000
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Yu, S., Poulos, V. & Stewart, P. A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria. J Hum Genet 45, 367–369 (2000). https://doi.org/10.1007/s100380070010
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DOI: https://doi.org/10.1007/s100380070010