Lead poisoning as a toxogenetic disease.
In two non-related patients suffering from acute lead intoxication a persistent decrease in red cell delta-aminolevulinic acid dehydratase (synonym: porphobilinogen synthase) activity of 30%-60% of controls was noted after treatment and normalisation of lead levels and heme precursors in urine and blood. An inherited enzyme deficiency was suggested and confirmed by a subnormal activity in the mothers of both patients. These four persons are considered as heterozygotes with an increased sensitivity to lead exposure.
D000328:Adult; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007855:Lead Poisoning / Q000235:genetics*; D008297:Male; D000623:Porphobilinogen Synthase / Q000097:blood* / Q000172:deficiency
D000623:Porphobilinogen Synthase