Doss M, Baumann H, Lorrek M, Laubenthal F, Schneider J
Klin Wochenschr. 1984 May 2;62(9):430-1. doi: 10.1007/BF01742302.
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.
在两名患有急性铅中毒的非亲属患者中,在铅水平以及尿液和血液中的血红素前体恢复正常后,发现红细胞δ-氨基乙酰丙酸脱水酶(同义词:胆色素原合酶)活性持续下降,降至对照组的30%-60%。提示存在遗传性酶缺乏,并通过两名患者母亲的酶活性低于正常水平得到证实。这四人被认为是对铅暴露敏感的杂合子。