Background. Acute intermittent porphyria is a hereditary error of porphyrin
metabolism in which the main metabolic defect is caused by a decrease in p
orphobilinogen deaminase activity. Previous work has demonstrated a higher
prevalence of acute intermittent porphyria in the psychiatric patient popul
ation than in the general population. The goal of this study was evaluate 3
00 psychiatric patients and 150 control subjects to detect acute intermitte
nt porphyria by measurement of porphobilinogen (PBG) deaminase activity in
blood.
Methods. Screening for porphobilinogen deaminase activity was carried out b
y fluorometric measurement of porphyrins synthesized during 1 h in blood an
d the measurement of delta-aminolevulinic acid and porphobilinogen in urine
.
Results. We found two psychiatric patients, one male and one female, with d
ecreased por porphobilinogen deaminase activity. When the families of these
patients were studied, one brother was found to have an abnormality. Among
controls, a woman was found to have the abnormality and her father was fou
nd to have typical features of the disease.
Conclusions, These results indicate a prevalence of porphyria in Mexican ps
ychiatric patients similar to controls, and that measurement of PEG deamina
se activity is a good tool for defining acute intermittent porphyria carrie
rs. (C) 2000 IMSS. Published by Elsevier Science Inc.