Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

Hum Genet. 1992 Apr;89(1):97-8. doi: 10.1007/BF00207051.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Codon / genetics
  • Female
  • Homozygote
  • Humans
  • Hydroxymethylbilane Synthase / genetics
  • Male
  • Molecular Sequence Data
  • Mutation / genetics
  • Polymerase Chain Reaction
  • Porphyria, Acute Intermittent*
  • Porphyrias / enzymology*
  • Porphyrias / genetics

Substances

  • Codon
  • Hydroxymethylbilane Synthase