苯丙酮尿症和致死性高苯丙氨酸血症患者中的二羟基蝶呤尿症
Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients.
作者信息
Watson B M, Schlesinger P, Cotton R G
出版信息
Clin Chim Acta. 1977 Aug 1;78(3):417-23. doi: 10.1016/0009-8981(77)90075-4.
7,8-Dihydroxanthopterin in identified in urine from phenylketonuria and lethal hyperphenylalaninemia patients. Because 7,8-dihyroxanthopterin is readily oxidised to xanthopterin, most of the characterisation was performed on xanthopterin. This finding indicates a gross disturbance of tetrahydrobiopterin metabolism in these patients. 7,8-dihydroxanthopterin or a related pterin may play a role in the pathogenesis of neurological symptoms in phenylketonuria and lethal hyperphenylalaninemia.
在苯丙酮尿症和致死性高苯丙氨酸血症患者的尿液中鉴定出7,8-二羟基蝶呤。由于7,8-二羟基蝶呤很容易被氧化为蝶呤，因此大部分特征鉴定是针对蝶呤进行的。这一发现表明这些患者的四氢生物蝶呤代谢存在严重紊乱。7,8-二羟基蝶呤或一种相关的蝶呤可能在苯丙酮尿症和致死性高苯丙氨酸血症的神经症状发病机制中起作用。
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