Abstract：
Propionic acidemia (PA) is an inherited autosomal recessive disorder of metabolism caused by a deficiency of propionyl CoA carboxylase, an enzyme that catalyses the conversion of propionyl CoA (PCA) to methylmalonyl CoA, inside the mitochondria, leading to inadequate metabolism of propionyl CoA causing hyperammonemia and metabolic acidosis. Children with PA require dextrose infusion to avoid protein catabolism. This child presented with severe metabolic decompensation and required urgent venous cutdown as there was a failure in establishing a peripheral intravenous line. Key Words: Propionic acidemia, Propionyl CoA, Emergency, Mitochondrial disorder, Organic acidemias.
摘要：
丙酸血症（PA）是一种由丙酰辅酶A羧化酶缺乏引起的遗传性常染色体隐性遗传疾病，一种催化丙酰辅酶A（PCA）转化为甲基丙二酰辅酶A的酶，在线粒体内部，导致丙酰辅酶A代谢不足，导致高氨血症和代谢性酸中毒。患有PA的儿童需要输注葡萄糖以避免蛋白质分解代谢。这个孩子出现了严重的代谢代偿失调，需要紧急切断静脉，因为无法建立外周静脉管线。关键词:丙酸血症,丙酰辅酶A,紧急情况,线粒体疾病,有机酸血症。
