高胱氨酸尿症是与胱硫醚合成酶—酶的一种缺乏有关的常染色体隐性遗传的代谢障碍病。虽少见,但由于本病有多种眼病体征,眼科医生应予以重视。其预后之所以险恶主要是由于发生血栓栓塞,形成意外,尤易在全麻过程中出现。病因发病机理仍在不可思议之例。本文特提出一例呈现第Ⅶ因子(前转变素血清凝血酶原转变加速素)缺乏而患高膀氨酸尿症的儿童。 Homocystinuria is an autosomal recessive metabolic disorder associated with a deficiency of cystathionine synthetase. Although rare, but the disease has a variety of signs of eye disease, ophthalmologists should pay attention. The reason why the prognosis is dangerous because of thromboembolism, the formation of accidents, especially in the process of general anesthesia appears. The etiology of the pathogenesis is still incredible. In this article, we present a case of children presenting with hyperbaricuria who present with a lack of factor VII (predasorbative serum prothrombin translocator).