Stoll C, Bieth R, Dreyfus J, Flori E, Lutz P, Levy J M
Arch Fr Pediatr. 1978 May;35(5):512-8.
Studies of a child with hyperammonemia have demonstrated a deficiency in OCTase. The kinetic properties of the enzyme were studied and it could be shown that we have to deal with a new mutation which is different from the ones previously known. It is a mutation of the structural gene. The detection of a heterozygote is possible when the urinary orotic acid excretion is studied after a loading meal (2g of proteines per kilo of weight). A child with hyperammonaemia due to ornithine transcarbamylase deficiency is described. A new structural gene mutation is probable because the kinetic properties of the enzyme are different to previously described variants. The heterozygote could be detected by the measurement of the excretion of orotic acid in the urine following a protein load of 2 g/Kg.
对一名高氨血症患儿的研究表明其鸟氨酸氨基甲酰转移酶（OCTase）缺乏。对该酶的动力学特性进行了研究，结果表明我们遇到了一种与先前已知突变不同的新突变。这是结构基因的突变。当在进食负荷餐（每公斤体重2克蛋白质）后研究尿乳清酸排泄时，有可能检测出杂合子。本文描述了一名因鸟氨酸转氨甲酰酶缺乏导致高氨血症的患儿。由于该酶的动力学特性与先前描述的变体不同，很可能存在一种新的结构基因突变。通过测量2克/千克蛋白质负荷后尿中乳清酸的排泄量可以检测出杂合子。
