Tschudy D P, Valsamis M, Magnussen C R
Ann Intern Med. 1975 Dec;83(6):851-64. doi: 10.7326/0003-4819-83-6-851.
Acute intermittent porphyria is an inborn error of metabolism characterized by the excretion of excess porphyrin precursors (porphobilinogen and usually delta-aminolevulinic acid) in the urine, and by sporadic attacks of neurologic dysfunction. The disease is complex, involving variable patterns of autonomic and peripheral neuropathy as well as the central nervous system manifestations. There may be alterations in carbohydrate, lipid, water, and electrolyte metabolism in addition to clinically inapparent endocrine abnormalities. The fundamental defect is thought to be a 50% decrease of uroporphyrinogen I synthetase, the third enzyme of the heme biosynthetic pathway. This is associated with a marked increase of hepatic delta-aminolevulinic acid synthetase, the first and rate controlling enzyme of the pathway. The measurement of uroporphyrinogen I synthetase in erythrocytes now provides an enzyme diagnostic test for the disease. Two therapeutic approaches that may prove to reverse the fundamental disease process, at least in some patients, involve [1] a high carbohydrate intake, and [2] intravenous administration of hematin. The latter, only recently introduced, is now being investigated.
急性间歇性卟啉病是一种先天性代谢紊乱疾病，其特征为尿液中排泄过量的卟啉前体（卟胆原，通常还有δ-氨基-γ-酮戊酸），并伴有偶发性神经功能障碍发作。该疾病较为复杂，涉及自主神经和周围神经病变的多种形式以及中枢神经系统表现。除了临床上不明显的内分泌异常外，碳水化合物、脂质、水和电解质代谢也可能发生改变。根本缺陷被认为是尿卟啉原Ⅰ合成酶减少50%，该酶是血红素生物合成途径的第三种酶。这与肝脏δ-氨基-γ-酮戊酸合成酶显著增加有关，后者是该途径的第一种也是限速酶。目前，测定红细胞中的尿卟啉原Ⅰ合成酶可为该疾病提供酶学诊断检测。至少在某些患者中，可能证明可逆转根本疾病过程的两种治疗方法包括：[1]高碳水化合物摄入，以及[2]静脉注射血红素。后者是最近才引入的，目前正在进行研究。
