The diagnosis is confirmed by measuring erythrocyte porphobilinogen deaminase activity.

可通过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 the help of porphobilinogen deaminase.

卟胆的四个分子一并压缩构成，羟甲基胆素在卟胆脱氨酶的辅助下。

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

卟胆脱氨酶有称为尿卟啉I合成酶或羟甲基胆素合成酶，缩略为HMBS。

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的人群大部分没有症状。

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

从这里开始，四分子胆色素在胆色素脱氨酶的作用下凝聚在一起，形成羟甲基胆色烷。

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在HMBS基因的突变；该基因编码卟胆脱氨酶。

SCID, who lacked the enzyme adenosine deaminase, or ADA, required to make infection-fighting white blood cells.

SCID，即严重联合免疫缺陷病，患者缺乏制造抗感染的白球所需的腺苷脱氨酶（ADA）这种酶。

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色体显性疾病，由红素合成途径中缺乏卟胆脱氨酶导致。