Wada Y
Department of Pediatrics, Nagoya City University Medical School.
Nihon Rinsho. 1992 Jul;50(7):1561-7.
Three kinds of inborn error of branched-chain amino acids (valine, leucine isoleucine) are described with a focus on the findings in recent biochemistry and molecular genetics. Frequency of valinemia and leucinisoleucinemia is quite low but their significance is distinct because of our knowledge that at least two aminotransferases, one branched-chain keto acids dehydrogenase and two short-chain acyl-CoA dehydrogenases are present in human, is based on the observations of these limited cases. In MSUD, the sequential study of each subunit cDNA reveals a close relationship between the clinical phenotypes and the various sites of mutation.
本文描述了三种支链氨基酸（缬氨酸、亮氨酸、异亮氨酸）的先天性代谢缺陷，并重点介绍了近期生物化学和分子遗传学方面的研究结果。缬氨酸血症和亮氨酸异亮氨酸血症的发病率相当低，但鉴于我们已知人类体内至少存在两种转氨酶、一种支链酮酸脱氢酶和两种短链酰基辅酶A脱氢酶，基于对这些有限病例的观察，它们的重要性十分显著。在枫糖尿症中，对每个亚基cDNA的序列研究揭示了临床表型与不同突变位点之间的密切关系。
