Abstract：
Multiple carboxylase deficiency organic Acidemia is a rare inherited metabolic disorder. It is autosomal recessive disorder of two types: Holocarboxylase deficiency and Biotinidase deficiency. It is the metabolic disorder resulting from deficiency of biotin as a co-enzyme or reduced activity of biotin-dependent carboxylases (propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase and pyruvate carboxylase). A case of two months\' female child is reported, who presented with recurrent infantile seizures and skin rash since birth; and biochemically with metabolic acidosis, hyper-ammonemia (on and off) since birth with multiple hospitalization. She had past history of jaundice. One sibling\'s death at 2nd day of life due to similar complaints. Initial presentation of raised ammonia and lactate levels were the first indication to this organic academia, which was later proven by increased peak levels of various organic acids on urine organic acid analysis by gas chromatography-mass spectrometry. Key Words: Multiple carboxylase deficiency, Holocarboxylase synthetase deficiency, Biotinidase deficiency.
摘要：
多种羧化酶缺乏症是一种罕见的遗传性代谢紊乱。它是两种类型的常染色体隐性遗传疾病：全羧化酶缺乏症和生物素糖苷酶缺乏症。它是由于缺乏生物素作为辅酶或生物素依赖性羧化酶（丙酰辅酶A羧化酶，和3-甲基巴豆酰基辅酶A羧化酶和丙酮酸羧化酶）。报告了一例两个月的女婴，自出生以来反复发作的婴儿癫痫发作和皮疹；在生化方面伴有代谢性酸中毒，高氨血症（开和关），自出生以来多次住院。她有黄疸史。由于类似的抱怨，一个兄弟姐妹在生命的第二天死亡。最初提出的升高的氨和乳酸水平是这个有机学术界的第一个迹象，后来通过气相色谱-质谱法在尿液有机酸分析中各种有机酸的峰值水平增加证明了这一点。关键词:多重羧化酶缺乏症,全羧化酶合成酶缺乏症，生物素酶缺乏症。
