Hessels J, Voortman G, van der Wagen A, van der Elzen C, Scheffer H, Zuijderhoudt F M J
Clinical Laboratory, Ziekenhuisgroep Twente, Streekziekenhuis Midden Twente, Hengelo, The Netherlands.
J Inherit Metab Dis. 2004;27(1):19-27. doi: 10.1023/B:BOLI.0000016613.75677.05.
A 7-year-old boy demonstrating hepatosplenomegaly, mild anaemia, mild mental retardation, yellow-brown teeth and dark red urine had excessively elevated levels of urinary delta-aminolevulinic acid, porphobilinogen and uroporphyrin. Furthermore hepta-, hexa-, penta- and copro(I)porphyrins were highly increased in urine. This pattern of porphyrin precursor and metabolite excretion is characteristic of acute intermittent porphyria. The decreased copro(III)/copro(I+III) ratio, normally not found in acute intermittent porphyria, is discussed. The porphobilinogen deaminase activity in red cells was decreased to 2-4%. Mutation analysis revealed a novel homozygous L81P mutation in exon 6 of the porphobilinogen deaminase gene. The father and mother, shown to be gene carriers of the same mutation, are asymptomatic and have normal urinary porphyrin precursor and metabolite excretion.
一名7岁男孩出现肝脾肿大、轻度贫血、轻度智力发育迟缓、牙齿呈黄褐色及暗红色尿液，其尿中δ-氨基乙酰丙酸、卟胆原和尿卟啉水平过度升高。此外，尿中七羧基卟啉、六羧基卟啉、五羧基卟啉和粪卟啉原（I）也显著增加。这种卟啉前体和代谢产物的排泄模式是急性间歇性卟啉病的特征。文中讨论了急性间歇性卟啉病通常不会出现的粪卟啉原（III）/粪卟啉原（I + III）比值降低的情况。红细胞中的卟胆原脱氨酶活性降至2% - 4%。突变分析显示，在卟胆原脱氨酶基因第6外显子中存在一种新的纯合L81P突变。父亲和母亲被证明是相同突变的基因携带者，他们没有症状，尿中卟啉前体和代谢产物排泄正常。
