Nordlinger B M, Fulenwider J T, Ivey G L, Faraj B A, Ali F M, Kutner M, Henderson J M, Rudman D
J Lab Clin Med. 1979 Dec;94(6):832-40.
The aim of this study was to define the enzyme defect responsible for tyrosinemia in cirrhotic patients. The principal hepatic degradation pathway for tyrosine, tyrosine leads to p-hydroxyphenylpyruvic acid equilibrium homogentisic acid leads to CO2 was studied in 18 cirrhotic patients and eight controls. The classic method employed in elucidation of hereditary tyrosinosis was sued. Metabolic intermediates on the pathway were measured in the basal state, and following oral loading doses (50 mg/kg BW) of tyrosine, PHPA, and homogentisic acid. Cirrhotic patients showed a significant increase (p = 0.005) in fasting plasma tyrosine and in basal PHPA excretion and impaired tolerance to all three metabolites when compared to normals. Fifteen of the 18 cirrhotic patients showed tyrosine intolerance which was not accompanied by change in distal metabolites compared to their basal levels. Nevertheless 13 of the 18 did exhibit intolerance of either PHPA or homogentisic acid. We conclude that in contrast to the single complete defect in hereditary disorders of tyrosine metabolism, cirrhotic patients have partial defects at tyrosine transaminase, PHPA oxidase, and homogentisic acid oxidase, the initial step being rate-limiting.
本研究的目的是确定导致肝硬化患者酪氨酸血症的酶缺陷。在18例肝硬化患者和8例对照中研究了酪氨酸的主要肝脏降解途径,即酪氨酸转化为对羟基苯丙酮酸,对羟基苯丙酮酸转化为尿黑酸,尿黑酸最终转化为二氧化碳。采用了阐明遗传性酪氨酸病的经典方法。在基础状态下以及口服负荷剂量(50mg/kg体重)的酪氨酸、对羟基苯丙酮酸和尿黑酸后,测量该途径上的代谢中间产物。与正常人相比,肝硬化患者空腹血浆酪氨酸、基础对羟基苯丙酮酸排泄量显著增加(p = 0.005),并且对所有三种代谢产物的耐受性受损。18例肝硬化患者中有15例表现出酪氨酸不耐受,与基础水平相比,其远端代谢产物没有变化。然而,18例中有13例确实表现出对对羟基苯丙酮酸或尿黑酸的不耐受。我们得出结论,与酪氨酸代谢遗传性疾病中的单一完全缺陷不同,肝硬化患者在酪氨酸转氨酶、对羟基苯丙酮酸氧化酶和尿黑酸氧化酶方面存在部分缺陷,第一步是限速步骤。