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

急卟啉病的患者存HMBS基因的突变；该基因编码卟胆原脱氨酶。

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

卟胆原的四个分子并压缩构成，羟甲基胆素卟胆原脱氨酶的助下。

The diagnosis is confirmed by measuring erythrocyte porphobilinogen deaminase activity.

可通过检测红细胞内卟胆原脱氨酶活以确诊。

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

从这里开始，四分子胆色素原胆色素原脱氨酶的作用下凝聚，形成羟甲基胆色烷。

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：急卟啉病是常染色体显疾病，由血红素合成途径中缺乏卟胆原脱氨酶导致。

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

存HMBS基因突变及缺乏卟胆原脱氨酶的人群大部分没有症状。

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

卟胆原脱氨酶有时被称为尿卟啉原I合成酶或羟甲基胆素合成酶，缩略为HMBS。

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血球所需的腺苷脱氨酶（ADA）这种酶。