Endo F, Kitano A, Uehara I, Nagata N, Matsuda I, Shinka T, Kuhara T, Matsumoto I
Pediatr Res. 1983 Feb;17(2):92-6. doi: 10.1203/00006450-198302000-00002.
Enzymatic studies on the liver of an infant are described-a case of hypertyrosinemia without hepatic dysfunction. His parents were siblings and the mother had hypertyrosinemia. Excessive amounts of 4-hydroxyphenylpyruvic acid (pHPP), 4-hydroxyphenylacetic acid (pHPL), and 4-hydroxyphenylacetic acid (pHPA) were found to be excreted in the patient's urine as well as in the urine of the mother and the inhibitor of porphobilinogen synthetase was not found. Soluble tyrosine aminotransferase (s-TAT), separated from that of the mitochondrial form (m-TAT) by DE 52 column chromatography, was normal in the patient's liver, both quantitatively and qualitatively. The activities of fumarylacetoacetase in the patient's liver and in the peripheral leucocytes from the parents were normal. The activity of pHPP oxidase in the patient's liver was approximately 5% of the control and the enzyme had a high Km value for pHPP (controls: 0.06 +/- 0.01 mM, patient: 0.23 +/- 0.03 mM). From these results, the patient was thought to be different from previously described types of tyrosinemia and perhaps representative of a new variant form. This is the first report concerning 4-hydroxyphenylpyruvic acid oxidase deficiency alone. Mild metal retardation and mild hypertyrosinemia may be offered as typical clinical features of the disease.
本文描述了对一名婴儿肝脏进行的酶学研究——该病例为无肝功能障碍的高酪氨酸血症。其父母为近亲，母亲患有高酪氨酸血症。研究发现，患者尿液以及其母亲尿液中均排泄有过量的4-羟基苯丙酮酸（pHPP）、4-羟基苯乙酸（pHPL）和4-羟基苯乙酸（pHPA），且未发现胆色素原合成酶抑制剂。通过DE 52柱色谱法从线粒体形式的酪氨酸转氨酶（m-TAT）中分离出的可溶性酪氨酸转氨酶（s-TAT），在患者肝脏中的数量和质量均正常。患者肝脏以及其父母外周血白细胞中的富马酰乙酰乙酸酶活性正常。患者肝脏中pHPP氧化酶的活性约为对照的5%，且该酶对pHPP具有较高的Km值（对照：0.06±0.01 mM，患者：0.23±0.03 mM）。基于这些结果，该患者被认为与先前描述的酪氨酸血症类型不同，可能代表一种新的变异形式。这是关于单纯4-羟基苯丙酮酸氧化酶缺乏症的首例报告。轻度智力发育迟缓及轻度高酪氨酸血症可能为此病的典型临床特征。
