The diagnosis is confirmed by measuring erythrocyte porphobilinogen deaminase activity.

可通过检测红细胞内卟胆原脱氨以确诊。

From there, four molecules of Porphobilinogen condense together to form Hydroxymethylbilane with help of Porphobilinogen deaminase.

从这里开始，四分子胆色素原在胆色素原脱氨的作用下凝在一起，形成羟甲基胆色烷。

The majority of individuals with the HMBS gene mutation and a deficiency of porphobilinogen deaminase are asymptomatic.

存在HMBS基因突变及缺乏卟胆原脱氨的人分没有症状。

From there, four molecules of porphobilinogen condense together to form hydroxymethylbilane with the help of porphobilinogen deaminase.

卟胆原的四个分子一并压缩构成，羟甲基胆素在卟胆原脱氨的辅助下。

Note that porphobilinogen deaminase is sometimes called uroporphyrinogen I synthase or hydroxymethylbilane synthase, or HMBS for short.

卟胆原脱氨有时被称为尿卟啉原I合成或羟甲基胆素合成，缩略为HMBS。

Now individuals with acute intermittent porphyria have a mutation of the HMBS gene which codes for the enzyme porphobilinogen deaminase.

急间歇卟啉病的患者存在HMBS基因的突变；该基因编码卟胆原脱氨。

All right, as a quick recap, acute intermittent porphyria is an autosomal dominant disorder caused by a deficiency of the enzyme porphobilinogen deaminase in the heme synthesis pathway.

好，快速回顾一下：急间歇卟啉病是常染色体显疾病，由血红素合成途径中缺乏卟胆原脱氨导致。