丙酮酸羧化酶催化从丙酮酸合成糖的第一步反应。它的缺乏可导致血中丙酮酸、乳酸和丙氨酸增加。有人认为此酶缺乏是进行性神经功能障碍,即所谓Leigh氏病的病因。作者报告一例严重智力及发育障碍病孩,亦有肝、肾和脑组织丙酮酸羧化酶 Pyruvate carboxylase catalyzes the first reaction of sugar from pyruvate synthesis. Its deficiency can lead to an increase in blood pyruvate, lactate and alanine. Some people think that this enzyme deficiency is progressive neurological dysfunction, the so-called cause of Leigh’s disease. The authors report a case of severe mental and developmental disorders in children, but also liver, kidney and brain pyruvate carboxylase