Gross U, Sassa S, Jacob K, Deybach J C, Nordmann Y, Frank M, Doss M O
Division of Clinical Biochemistry, Philipps University Hospital, Marburg, Germany.
Clin Chem. 1998 Sep;44(9):1892-6.
5-Aminolevulinic acid dehydratase (ALAD) activity in two patients with compound heterozygous 5-aminolevulinic acid dehydratase deficiency porphyria was studied over the last 20 years. The patients' enzyme activity was <10% from 1977 to 1997. An acute crisis in each patient was successfully treated by infusion of glucose and heme arginate. After this therapy both urinary 5-aminolevulinic acid (ALA) and total porphyrins were diminished to 65% in patient B. In patient H, ALA was decreased to 80%, and total porphyrins were reduced to 15% after treatment with heme arginate and glucose. The patients remained free of symptoms after this therapy. Family studies of patient B showed cross-reactive immunological material (CRIM), in which the maternal mutation is CRIM(+), whereas the paternal mutation is CRIM(-). Incubation of erythrocyte lysates with ALA decreased porphyrin formation, whereas incubation with porphobilinogen produced porphyrin concentrations within reference values in both patients, confirming that ALAD activity is rate-limiting in these cells.
在过去20年里，对两名患有5-氨基乙酰丙酸脱水酶缺乏性卟啉症复合杂合子的患者的5-氨基乙酰丙酸脱水酶（ALAD）活性进行了研究。从1977年到1997年，这两名患者的酶活性均低于10%。通过输注葡萄糖和精氨酸血红素成功治疗了每位患者的急性发作。治疗后，患者B的尿5-氨基乙酰丙酸（ALA）和总卟啉均降至65%。在患者H中，经精氨酸血红素和葡萄糖治疗后，ALA降至80%，总卟啉降至15%。治疗后患者无症状。对患者B的家族研究显示存在交叉反应免疫物质（CRIM），其中母系突变是CRIM（+），而父系突变是CRIM（-）。用ALA孵育红细胞裂解物可减少卟啉形成，而用胆色素原孵育在两名患者中均产生参考值范围内的卟啉浓度，证实ALAD活性在这些细胞中是限速的。
