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

从这里开始，四分子色素在色素氨酶下凝聚在起，形成羟甲基色烷。

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

卟四个分子并压缩构成，羟甲基素在卟氨酶辅助下。

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

卟氨酶有时被称为尿卟啉I合成酶或羟甲基素合成酶，缩略为HMBS。

The diagnosis is confirmed by measuring erythrocyte porphobilinogen deaminase activity.

可通过检测红细胞内卟氨酶活性以确诊。

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

存在HMBS基因突变及缺乏卟氨酶人群大部分没有症状。

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氨酶导致。