Chester has porphyria. I can't believe it.

Chester得了紫质症 真不敢相信。

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；该基因编码卟胆原脱氨酶。

Glucose and heme are the treatments for acute intermittent porphyria as they inhibit aminolevulinic acid synthase, the first enzyme involved in heme synthesis.

葡萄糖和血红素用于治疗急性间歇性卟啉病，他们能抑制氨基乙酰丙酸的合成，即影响参与血红素合成的第一种酶。

So, the symptoms of acute intermittent porphyria can be remembered with the 4 P's mnemonic: Painful Abdomen, Polyneuropathy, Psychological disturbances, and Port-wine colored urine.

急性间歇性卟啉病的症状可以用4个P来记忆：腹痛、多发性神经病、精神障碍、葡萄酒色尿。

In order to better understand acute intermittent porphyria, we need to first take a look at hemoglobin, the main protein within red blood cells that's responsible for carrying oxygen.

为了更好地理解急性间歇性卟啉病，我们首先需要来了解血红蛋白；作为红细胞内的主要蛋白，它负责携带氧气。

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，由血红素合成途径中缺乏卟胆原脱氨酶导致。

The last important thing to keep in mind is that acute intermittent porphyria can be distinguished from the other many porphyrias by the fact that it doesn't cause any photosensitive cutaneous symptoms, like skin blistering when exposed to sunlight.

还需要牢记的是，急性间歇性卟啉病患者一般没有光敏皮肤症状，可区别与许多其他类型的卟啉病：那些患者暴露在光照下时，皮肤会起水疱。

So, the porphyria disorders occur when one of the enzymes in the heme synthesis pathway is deficient, which causes a decrease in heme synthesis and a buildup of metabolites formed in the earlier steps of the pathway.

在血红素合成路径中，如果有其中一种酶缺乏导致血红素合成下降及在合成路径的早期，大量代谢产物形成，卟啉症就会发生。