The diagnosis is confirmed by measuring erythrocyte porphobilinogen deaminase activity.

可通过检测红细胞内胆脱氨活性以确诊。

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

胆四个分子一并压缩构成，羟甲基胆素在胆脱氨助下。

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

胆脱氨有时被称为I合成或羟甲基胆素合成，缩略为HMBS。

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

存在HMBS基因突变及缺乏胆脱氨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.

急性间歇性病患者存在HMBS基因突变；该基因编码胆脱氨。

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白血球所需腺苷脱氨（ADA）这种。

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：急性间歇性病是常染色体显性疾病，由血红素合成途径中缺乏胆脱氨导致。