有机酸尿(血)症是一类常染色体隐性遗传性代谢疾病,由于一种或多种酶或其辅酶的先天缺陷所造成。正常情况下,氨基酸经过脱氨或转氨作用后所生成的各种羧酸(有机酸)均需通过氧化、脱羧等多个步骤,最终进入三羧酸循环。每一步过程都由相应的 Organic aciduria is a type of autosomal recessive metabolic disease caused by a birth defect of one or more enzymes or their coenzymes. Under normal circumstances, the amino acids after deamination or transamination generated after the various carboxylic acids (organic acids) are required through the oxidation, decarboxylation and other steps, and finally into the carboxylic acid cycle. Each step by the corresponding process