丙酸血症属有机酸血症,因丙酰辅酶A羧化酶缺陷所致,是一种常染色体隐性遗传病。国内尚无报告,本研究室遗传门诊遇到一例,患儿于89年5月30日就诊,为3岁女孩,出生后第9天出现周期性呕吐伴代谢性酸中毒,经许多医院检查治疗,未能查出病因,疾病反复发作。患儿血、尿经气相色谱分析,发现大量异常有机酸,包括3-羟丙酸、2-甲基-3羟丁酸、3-羟异戊酸、3-羟戊酸、3-酮戊酸、丙酰甘氨 Acrylic acid is an organic acidosis, due to propionyl-CoA carboxylase deficiency caused by an autosomal recessive disease. There is no report in our country yet. One case was found in our genetic clinic. The patient was treated on May 30, 1989 and was a 3-year-old girl. On day 9 after birth, he developed periodic vomiting with metabolic acidosis. After many hospital examinations and treatments , Failed to detect the cause of the disease recurrent. Children with blood, urine by gas chromatography analysis found a large number of abnormal organic acids, including 3-hydroxypropionic acid, 2-methyl-3 hydroxybutyric acid, 3-hydroxyvaleric acid, 3- Acid, propionyl glycine