Takita H
Department of Pediatrics, University of Tsukuba.
Nihon Rinsho. 1992 Jul;50(7):1516-21.
After the definition and the heredity of inborn errors of amino acid metabolism and a discussion of the incidence of these diseases, the four primary types of clinical features, namely 1) the prenatal, 2) neonatal (with acute onset), 3) mild, and 4) abortive types are described. The pathophysiology of brain damage is discussed. Based on recent findings, inborn errors of amino acid metabolism were classified according to their cause, 1) primary defect in catabolism, and 2) disturbances in the transport of amino acid. For each disease, the amino acids which can be detected in the plasma or in the urine are listed, along with the enzymes which are defective in each case.
在阐述了氨基酸代谢先天性缺陷的定义、遗传方式并讨论了这些疾病的发病率之后，描述了四种主要的临床特征类型，即1）产前型、2）新生儿型（急性起病）、3）轻型和4）顿挫型。讨论了脑损伤的病理生理学。基于最近的研究结果，氨基酸代谢先天性缺陷根据其病因分为两类：1）分解代谢的原发性缺陷，2）氨基酸转运障碍。列出了每种疾病在血浆或尿液中可检测到的氨基酸，以及每种情况下存在缺陷的酶。
