摘要
丙酸血症(propionic acidemia)为发病率较高的有机酸血症,迄今全世界已报告约100例.本病因丙酰辅酶A羧化酶(propionyl-CoA carboxylase)缺陷所致.主要表现为周期发作性代谢性酸中毒.本文报告国内首例丙酸血症.
A case of propionic acidemia is reported. The main features of this patient were recurrent vomiting, ketosis and occasional episodes of seizure. Serum concentrations of propionic acid and glycine were within the normal range. Blood ammonia was slightly elevated. Characteristic organic acids were present in the patient's urine, they were- 3-hydroxypropionic acid, propionyglycine, methyl-citric acid, tiglyglycine, 3-hydroxyvaleric acid, etc. The etiology,pathogenesis, clinical features, diagnosis, and treatment of propionic acidemia are briefly discused,
出处
《中国医学科学院学报》
CAS
CSCD
北大核心
1991年第2期141-143,共3页
Acta Academiae Medicinae Sinicae
