Summary
δ-Aminolevulinic acid dehydratase (ALA-D, respectively porphobilinogen synthase, EC 4.2.1.24) activity can be lowered by toxic, metabolic and hereditary factors. A 30-year-old painter was suffering from lead poisoning with an acute abdominal-neurologic syndrome and anemia. Blood lead was measured at 414 μg/l. Urinary ALA and coproporphyrin excretion as well as erythrocyte protoporphyrin had increased extremely, whereas ALA-D activity in erythrocytes had decreased extremely to 8% of controls. Excretion parameters, protoporphyrin, hemoglobin and lead returned to normal after treatment, but four years later ALA-D activity still remained diminished (30% of controls). An inherited enzyme deficiency was assumed and found in the mother, analogous to the subnormal ALA-D activity in heterozygotes of four other families. The inherited enzyme deficiency sensitized the patient to lead exposure and intoxication, which is a toxogenetic disease in this case.
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Doss, M., Laubenthal, F. & Stoeppler, M. Lead poisoning in inherited δ-aminolevulinic acid dehydratase deficiency. Int Arch Occup Environ Heath 54, 55–63 (1984). https://doi.org/10.1007/BF00378728
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DOI: https://doi.org/10.1007/BF00378728