4 MUTATIONS IN THE PORPHOBILINOGEN DEAMINASE GENE IN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA

We have detected four different mutations in the porphobilinogen deami nase (PBGD) gene in acute intermittent porphyria (AIP) families from E ngland, Norway, and Sweden. A splicing mutation in the first position of intron 8 (Int8+1) was found in a family from England and a missense mutation in exon 12 (Glu(250)) was detected in a Norwegian family. Tw o mutations were identified in Swedish families, one splicing mutation in the first position of intron 3 (Int3+1) and one missense mutation in exon 8 (Pro(119)).