丙酸血症的筛查、诊断与治疗

Screening, diagnosis and treatment of propionic academia

丙酸血症又称丙酸尿症,是一种罕见的常染色体隐性遗传代谢病。由于丙酰辅酶A羧化酶的缺陷导致支链氨基酸和奇数链脂肪酸代谢障碍,引起脑、心、肝、骨髓等多器官损害,致残或致死。丙酸血症临床表现个体差异大,多数患者在新生儿或婴儿早期起病。由于患者临床表现缺乏特异性,临床诊断困难,需通过血液氨基酸及酯酰肉碱谱、尿液有机酸谱及基因分析明确诊断。急性期及稳定期需个体化治疗,以左卡尼汀、饮食控制、对症治疗和肝移植为主。若未及时治疗,丙酸血症的病死率和致残率较高,早期筛查、诊断和正确治疗是挽救患儿和改善预后的关键。

Propionic acidemia or propionic aciduria,is a rare autosomal recessive inherited metabolic disease.It is a metabolic disorder of branched amino acids and odd-chain fatty acids caused by propionyl-CoA carboxylase deficiency,resulting in brain,heart,liver,bone marrow or multi-organ damages leading to disabilities even death.Patients with propionic acidemia have various clinical manifestations.Most patients presented in the neonatal period or early infancy.Nonspecific clinical presentations of the patients make the clinical diagnosis difficult,a definite diagnosis relies on the blood amino acids and acylcarnitines determination,urine organic acids analysis,and gene testing.The treatment for the patients in acute and stable phase should be individualized,including L-carnitine,dietary management,symptomatic intervention and liver transplantation.If not treated timely,patients have a high risk of death and disability.Early screening,diagnosis and treatment can greatly improve the patients′clinical outcomes.