论文部分内容阅读
自Fфlling于1934年叙述苯酮尿症以来,高苯丙氨酸血症这一常染色体隐性遗传特质,受到了人们的关注。许多作者相继报告各种高苯丙氨酸血症的变异型,并提出不同的命名和分型,导致了术语上的混乱。近年研究的进展,阐明了高苯丙氨酸血症的代谢机理,使有可能对高苯丙氨酸血症按生化表型分型,继而作出实验诊断和鉴别诊断。本文简要介绍苯丙氨酸的代谢、高苯丙氨酸血症的分型、生化特征及其诊断和鉴别诊断。苯丙氨酸的代谢 L-苯丙氨酸为人体的一种必需氨基酸。(?)食中的苯丙氨酸在体内被利用于蛋白质合成的比率,在生长早期约为50%,并随生长速率减慢而减小。在体内,苯丙氨酸主要经羟化作用变为酪氨酸,很小一部分经次要代谢途径转变为其他代谢物。兹将体内苯丙氨酸的代谢概况列于图Ⅰ。
Since F фlling describes phenylketonuria in 1934, the autosomal recessive inheritance of hyperphenylalaninemia has received much attention. Many authors have reported various variants of hyperphenylalaninemia and have come up with different names and subtypes, leading to terminological confusion. Recent advances in research have elucidated the metabolic mechanism of hyperphenylalaninemia, making it possible to classify hyperphenylalaninemia on a biochemical phenotype, followed by experimental diagnosis and differential diagnosis. This article briefly describes the phenylalanine metabolism, high phenylalaninemia type, biochemical characteristics and diagnosis and differential diagnosis. Phenylalanine metabolism L-phenylalanine is an essential amino acid of the human body. (?) The phenylalanine content in food is utilized in the body for the ratio of protein synthesis, which is about 50% in early growth and decreases with slower growth rate. In vivo, phenylalanine is converted primarily to tyrosine by hydroxylation, and a small fraction is converted to other metabolites via minor metabolic pathways. The phenotypic profiles of phenylalanine in vivo are presented in Figure I.