Endo F
Department of Pediatrics, Kumamoto University Medical School.
Nihon Rinsho. 1992 Jul;50(7):1568-74.
Several conditions and disorders were caused by enzyme defects in metabolism of imino acids. Hyperprolinemia type I and type II, hyperhydroxyprolinemia, imidopeptiduria (prolidase deficiency) were related to proline and/or hydroxyproline metabolism. Sarcosinemia and abnormality in pipecolic acid metabolism were also classified as inborn errors of imino acid metabolism. In this brief review, the outline of these genetic conditions or disorders were described. Among the genetic enzyme defects, imidopeptiduria (prolidase deficiency) caused severe clinical problems. Other conditions were thought to be benign.
几种病症和紊乱是由亚氨基酸代谢中的酶缺陷引起的。I型和II型高脯氨酸血症、高羟脯氨酸血症、咪唑肽尿症（脯氨酰二肽酶缺乏症）与脯氨酸和/或羟脯氨酸代谢有关。肌氨酸血症和哌可酸代谢异常也被归类为亚氨基酸代谢的先天性缺陷。在这篇简短的综述中，描述了这些遗传病症或紊乱的概况。在遗传酶缺陷中，咪唑肽尿症（脯氨酰二肽酶缺乏症）引起严重的临床问题。其他病症被认为是良性的。
