Dhondt J L, Guibaud P, Rolland M O, Dorche C, Andre S, Forzy G, Hayte J M
Laboratoire de Biochimie, Faculté Libre de Médecine, Lille, France.
Eur J Pediatr. 1988 Feb;147(2):153-7. doi: 10.1007/BF00442213.
Systematic investigation of hyperphenylalaninaemic infants for tetrahydrobiopterin deficiency has recently led to the description of new variants of cofactor deficiency. In the present case, the initial observation was of hyperphenylalaninaemia with a significant increase in the neopterin to biopterin ratio in the urine. A tetrahydrobiopterin loading test resulted in a significant decrease of blood phenylalanine levels. Cerebrospinal fluid (CSF) biopterin and neurotransmitter metabolite levels were within the normal range. The in vivo clearance of phenylalanine remained altered despite a high dietary tolerance. At 9 months of age, the patient was clinically well, but minor neurological signs appeared when blood phenylalanine levels increased. These data were similar to those found in the so-called "peripheral form" of tetrahydrobiopterin deficiency. However, an unidentified pteridine-like compound had been found in the urine and CSF since the birth, suggesting the existence of an unknown block in the biosynthetic pathway of biopterin.
近期，针对高苯丙氨酸血症婴儿进行的四氢生物蝶呤缺乏症系统调查，促成了辅因子缺乏新变体的描述。在本病例中，最初观察到的是高苯丙氨酸血症，同时尿液中新蝶呤与生物蝶呤的比值显著升高。四氢生物蝶呤负荷试验导致血苯丙氨酸水平显著下降。脑脊液（CSF）中的生物蝶呤和神经递质代谢物水平在正常范围内。尽管饮食耐受性良好，但苯丙氨酸的体内清除率仍未恢复正常。9个月大时，患者临床状况良好，但当血苯丙氨酸水平升高时出现了轻微的神经体征。这些数据与在所谓“外周型”四氢生物蝶呤缺乏症中发现的数据相似。然而，自出生以来，在尿液和脑脊液中发现了一种不明的蝶呤样化合物，提示生物蝶呤生物合成途径中存在未知的阻断。
