The diagnosis is confirmed by measuring erythrocyte porphobilinogen deaminase activity.

可通过检测红细胞内卟原脱氨酶活性以确诊。

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

从这里开始，四分子素原素原脱氨酶的作用下凝一起，形成羟甲基。

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

存HMBS基因突变及缺乏卟原脱氨酶的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.

卟原的四个分子一并压缩构成，羟甲基素卟原脱氨酶的辅助下。

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

卟原脱氨酶有时被称为尿卟啉原I合成酶或羟甲基素合成酶，缩略为HMBS。

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

急性间歇性卟啉病的患者存HMBS基因的突变；该基因编码卟原脱氨酶。

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体显性疾病，由红素合成途径中缺乏卟原脱氨酶导致。