Hsu W C, Lin S P, Huang F Y, Wang P A, Hsiao K J
Department of Pediatrics, Mackay Memorial Hospital, Taipei, R.O.C.
Zhonghua Yi Xue Za Zhi (Taipei). 1990 Nov;46(5):306-10.
Propionic acidemia is a rare hereditary disease which is an autosomal recessive disorder. Defect of propionyl CoA carboxylase results in abnormal accumulation of propionate and its metabolites which interfere the pathway of glycine cleavage and the urea cycle. This organic acidemia is characterized by a wide spectrum of clinical and biochemical findings, including recurrent vomiting, difficult feeding, lethargy, hypotonia, metabolic ketoacidosis, hyperglycinemia and hyperammonemia during the acute episodes. We present a male newborn infant who sustained this disorder and was managed successfully with blood exchange transfusion, peritoneal dialysis, supplemented with sodium benzoate and sodium bicarbonate therapy. Urine gas chromatography disclosed significant elevation of propionate and its metabolites which subsided 2 days after peritoneal dialysis. Special designed formula was then given with restriction of protein intake and supplement with sodium benzoate and sodium carbonate. Prenatal genetic counseling is necessary in further pregnancy. Diagnosis can be obtained when propionyl CoA carboxylase activity is low in cultured amniotic fluid cells or chorion villi sample or when there is abnormally high methylcitrate level in amniotic fluid.
丙酸血症是一种罕见的遗传性疾病，属于常染色体隐性遗传病。丙酰辅酶A羧化酶缺陷导致丙酸盐及其代谢产物异常蓄积，干扰甘氨酸裂解途径和尿素循环。这种有机酸血症的特点是具有广泛的临床和生化表现，包括急性发作时反复呕吐、喂养困难、嗜睡、肌张力减退、代谢性酮症酸中毒、高甘氨酸血症和高氨血症。我们报告一名患有这种疾病的男性新生儿，通过换血输血、腹膜透析，并补充苯甲酸钠和碳酸氢钠治疗，成功得到救治。尿液气相色谱分析显示丙酸盐及其代谢产物显著升高，腹膜透析2天后恢复正常。随后给予特殊配方饮食，限制蛋白质摄入，并补充苯甲酸钠和碳酸钠。再次怀孕时需要进行产前遗传咨询。当培养的羊水细胞或绒毛膜绒毛样本中丙酰辅酶A羧化酶活性较低，或羊水中甲基柠檬酸水平异常升高时，可作出诊断。
