Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia.
Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia.
复制标题
高蛋白膳食补充剂对高苯丙氨酸血症患者的危险。
DOI：
10.1023/a:1025103018278
复制
发表时间：
2003
影响因子：
4.2
通讯作者：
Guttler,F
中科院分区：
文献类型：
--
作者：
Koch,R;Moseley,KD;Moats,R;Yano,S;Matalon,R;Guttler,F
一名患有轻度高苯丙氨酸血症的16岁青少年每天两次服用高蛋白“健身”补充剂，导致头痛，学习成绩下降和轻度抑郁。停止补充后，所有症状均消失。发现苯丙氨酸羟化酶突变H170 D/IVS 1 nt 5G>T对四氢生物蝶呤有反应，血液苯丙氨酸浓度显著降低，血液酪氨酸含量显著增加。最初记录的脑苯丙氨酸水平为0.5 mmol/L，在停止蛋白质补充的一个月内降至0.2 mmol/L的正常携带者范围。目前，患者正常饮食，不限制苯丙氨酸。
A 16-year-old adolescent with mild hyperphenylalaninaemia was given a high-protein 'body building' supplement twice daily, causing headaches, decreased school performance and mild depression. All symptoms disappeared after cessation of the supplement. The phenylalanine hydroxylase mutation H170D/IVS1nt5G>T was found to be responsive to tetrahydrobiopterin with significant decrease in blood phenylalanine concentration and increase in tyrosine blood content. A brain phenylalanine level of 0.5 mmol/L was initially documented, which decreased to the normal carrier range of 0.2 mmol/L within one month of discontinuance of the protein supplement. At present, the patient is on a normal diet without phenylalanine restriction.