苯丙氨酸代谢
中文名称
通路描述
该途径的第一步反应将苯丙氨酸转化为酪氨酸，同时催化四氢生物蝶呤（tetrahydrobiopterin）转化为 4a-羟基四氢生物蝶呤，由苯丙氨酸羟化酶催化。该酶的缺乏是人类最常见的苯丙酮尿症（PKU）形式。此反应既是身体排出过量苯丙氨酸的途径的第一步，也是酪氨酸氨基酸的来源。接下来的两个反应负责将 4a-羟基四氢生物蝶呤再生为四氢生物蝶呤（Blau et al. 2001）。
英文描述
Phenylalanine metabolism The first reaction in this pathway converts phenylalanine to tyrosine, coupled to the conversion of tetrahydrobiopterin to 4a-hydroxytetrahydrobiopterin, catalyzed by phenylalanine hydroxylase. Deficiencies in this enzyme are responsible for the commonest form of phenylketonuria (PKU) in humans. This reaction functions both as the first step in the pathway by which the body disposes of excess phenylalanine, and as a source of the amino acid tyrosine. The next two reactions are responsible for the regeneration of tetrahydrobiopterin from 4a-hydroxytetrahydrobiopterin (Blau et al. 2001).
所含基因
6 个基因