title: A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.
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.
authors.affiliation: Department of Clinical Biochemistry, Royal Prince Alfred Hospital, Camperdown, NSW, Australia. yus@mail.wch.sa.gov.au
authors.forename: S
authors.initials: S
authors.lastname: Yu
authors.forename: V
authors.initials: V
authors.lastname: Poulos
authors.forename: P
authors.initials: P
authors.lastname: Stewart
mesh_terms: D000328:Adult; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008297:Male; D009154:Mutation; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
chemical_list: D011163:Hydroxymethylbilane Synthase