Porphyrias are a set of rare inherited metabolic disorders, each of them representing a defect in one of the eight enzymes in the haem biosynthetic pathway resulting in the accumulation of organic compounds called porphyrins. Acute hepatic porphyrias (AHP) are those in which the enzyme deficiency occurs in the liver, of which acute intermittent porphyria is by far the most common subtype. Neurology of the AHP is still challenging in practice, and patients rarely receive the correct diagnosis early in the disease course. For AHP, which primarily affects the central and peripheral nervous system, the cause of symptoms seems to be the increased production of neurotoxic precursors, in particular delta-aminolaevulinic acid and porphobilinogen. Neurological complications usually result from severe episodes of acute attacks. The neurologic hallmark of porphyrias is an acute predominantly motor axonal neuropathy resembling a Guillain-Barré syndrome that generally occurs after the onset of other clinical features such as abdominal pain and central nervous system manifestations. Neuropsychiatric syndromes, seizures, encephalopathy, and cerebrovascular disorders are among the possible central nervous system presentations. Therapeutic approach to AHP is divided into management and prophylaxis of an acute attack, including long standing options such as intravenous hematin and new therapeutic agents such as givosiran.

卟啉症是一组罕见的遗传性代谢紊乱，每一种都代表血红素生物合成途径中的八种酶中的一种存在缺陷，导致称为卟啉的有机化合物的积累。急性肝卟啉症（AHP）是指肝脏发生酶缺乏症，其中急性间歇性卟啉症是迄今为止最常见的亚型。AHP 的神经学在实践中仍然具有挑战性，患者很少在病程早期得到正确的诊断。对于主要影响中枢和外周神经系统的 AHP，症状的原因似乎是神经毒性前体的产生增加，特别是 δ-氨基乙酰丙酸和胆色素原。神经系统并发症通常由严重的急性发作引起。卟啉症的神经系统标志是一种以运动为主的急性轴索神经病变，类似于格林-巴利综合征，通常在出现其他临床特征（如腹痛和中枢神经系统表现）后发生。神经精神综合征、癫痫、脑病和脑血管疾病是可能的中枢神经系统表现。AHP 的治疗方法分为急性发作的管理和预防，包括长期选择，如静脉注射血红素和新的治疗剂，如 givosiran。癫痫、脑病和脑血管疾病是可能的中枢神经系统表现。AHP 的治疗方法分为急性发作的管理和预防，包括长期选择，如静脉注射血红素和新的治疗剂，如 givosiran。癫痫、脑病和脑血管疾病是可能的中枢神经系统表现。AHP 的治疗方法分为急性发作的管理和预防，包括长期选择，如静脉注射血红素和新的治疗剂，如 givosiran。