title: May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
abstract: Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the porphobilinogen deaminase (PBGD) gene. This paper reviews published mutations, their types, and polymorphisms within the PBGD gene. To date, 301 different mutations and 21 polymorphisms have been identified in the PBGD gene in AIP patients and individuals from various countries and ethnic groups. During the search for mutations identified among Slavic AIP patients we found 65 such mutations and concluded that there is not a distinct predominance of certain mutations in Slavs.
authors.affiliation: Department of Pediatrics, School of Medicine I, Charles University, Prague, Czech Republic.
authors.forename: M
authors.initials: M
authors.lastname: Hrdinka
authors.forename: H
authors.initials: H
authors.lastname: Puy
authors.forename: P
authors.initials: P
authors.lastname: Martasek
mesh_terms: D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D017118:Porphyria, Acute Intermittent / Q000453:epidemiology / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D011163:Hydroxymethylbilane Synthase