The diagnosis is confirmed by measuring erythrocyte porphobilinogen deaminase activity.

检测红细胞内卟胆脱氨酶活性以确诊。

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

从这里开始，分子胆色素在胆色素脱氨酶作用下凝在一起，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脱氨酶人群大部分没有症状。

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

卟胆个分子一并压缩构成，羟甲基胆素在卟胆脱氨酶辅助下。

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

急性间歇性卟啉病患者存在HMBS基因突变；该基因编码卟胆脱氨酶。

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

卟胆脱氨酶有时被称为尿卟啉I合成酶或羟甲基胆素合成酶，缩略为HMBS。

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：急性间歇性卟啉病是常染色体显性疾病，由血红素合成途径中缺乏卟胆脱氨酶导致。