Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. Human genetics. [Hum Genet] Journal article

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.

Human genetics. [Hum Genet]

Base Sequence
Codon
Female
Homozygote
Humans
Hydroxymethylbilane Synthase
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Porphyria, Acute Intermittent
Porphyrias
Research Support, Non-U.S. Gov't