Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.
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.
Llewellyn
D H
DH
Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
Smyth
S J
SJ
Elder
G H
GH
Hutchesson
A C
AC
Rattenbury
J M
JM
Smith
M F
MF
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
D003062:Codon; D011163:Hydroxymethylbilane Synthase