由于四氢生物蝶呤合成缺陷导致的高苯丙氨酸血症中的肝酶活性。
Liver enzyme activities in hyperphenylalaninaemia due to a defective synthesis of tetrahydrobiopterin.
作者信息
Dhondt J L, Cotton R G, Danks D M
出版信息
J Inherit Metab Dis. 1985;8(2):47-8. doi: 10.1007/BF01801660.
PMID:3939528
Abstract
This report confirms the accumulation of neopterin and the low biopterin concentration in the liver of a "biopterin-synthetase" deficient patient. Enzymatic studies suggest that the defect lies between the "X"-compound (6-pyruvoyl-tetrahydropterin?) and tetrahydrobiopterin and that pterin found in the patient's liver arises from the "X"-compound.
摘要
本报告证实了一名“生物蝶呤合成酶”缺乏患者肝脏中新蝶呤的积累和低生物蝶呤浓度。酶学研究表明，缺陷存在于“X”化合物（6-丙酮酰四氢蝶呤？）和四氢生物蝶呤之间，且患者肝脏中发现的蝶呤源自“X”化合物。
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