title: Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.
abstract: A sister and brother with severe porphobilinogen (PBG) deaminase deficiency are described. Each of their parents carries a different mutation for acute intermittent porphyria and the children are homozygous for the PBG-deaminase deficiency that causes this disorder. Both are compound heterozygotes for adjacent base transitions in the same codon in exon 10 of the PBG deaminase gene.
authors.affiliation: Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: D H
authors.initials: DH
authors.lastname: Llewellyn
authors.forename: S J
authors.initials: SJ
authors.lastname: Smyth
authors.forename: G H
authors.initials: GH
authors.lastname: Elder
authors.forename: A C
authors.initials: AC
authors.lastname: Hutchesson
authors.forename: J M
authors.initials: JM
authors.lastname: Rattenbury
authors.forename: M F
authors.initials: MF
authors.lastname: Smith
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D017118:Porphyria, Acute Intermittent; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics
chemical_list: D003062:Codon; D011163:Hydroxymethylbilane Synthase