Department of Neurology, Royal North Shore Hospital, Reserve Road, St. Leonards, New South Wales 2065, Australia.
J Clin Neurosci. 2011 Sep;18(9):1147-53. doi: 10.1016/j.jocn.2011.01.003. Epub 2011 Jul 2.
The porphyrias are diseases characterised by accumulation of porphyrins and porphyrin precursors owing to enzymatic deficiencies of the haem synthetic pathway. In the acute hepatic porphyrias accumulation of porphyrin precursors, in particular delta-aminolaevulinic acid (ALA), cause dysfunction of the central, peripheral and autonomic nervous systems. This leads to the characteristic clinical findings of abdominal pain, neuropsychiatric symptoms and neuropathy. The exact pathogenic mechanism is not clear but evidence to date suggests both direct toxic effects of ALA and intracellular metabolic derangement contribute to the neurologic disorders. This review explores the mechanisms of neural dysfunction in the acute porphyrias and the resultant clinical features of an acute attack.
卟啉病是由于血红素合成途径中酶的缺乏导致卟啉和卟啉前体积累的疾病。在急性肝性卟啉病中，卟啉前体的积累，特别是 δ-氨基酮戊酸（ALA），导致中枢、周围和自主神经系统的功能障碍。这导致了腹痛、神经精神症状和神经病的特征性临床发现。确切的发病机制尚不清楚，但迄今为止的证据表明，ALA 的直接毒性作用和细胞内代谢紊乱都有助于神经紊乱。这篇综述探讨了急性卟啉病中神经功能障碍的机制以及急性发作的临床特征。
