枫糖尿症属于常染色体隐性遗传性氨基酸代谢病，是由于体内支链α-酮酸脱氢酶复合体缺陷，导致相应的支链氨基酸代谢障碍，临床以生活能力低下、酸中毒、神经系统损伤和智力障碍等为主要表现。目前已可通过串联质谱法、高效液相色谱法对枫糖尿症进行筛查诊断，但变异型枫糖尿症易漏诊，虽然肝移植对枫糖尿症的治疗效果确切，但因供肝稀少而受到限制。文章就枫糖尿症筛查、诊断及治疗等相关进展作一综述。%Maple syrup urine disease (MSUD) is an autosomally recessively inherited disorder of branched-chain amino acid (BCAA) metabolism caused by the defective activity of branched-chainα-ketoacid dehydrogenase complex (BCKD). The disease is characterized by severe ketoacidosis, mental retardation, and neurological impairments. So far, application of tandem mass spectrom-etry and HPLC has allowed newborn screening and early detection, but some patients with variant forms of the disorder will escape detection. Liver transplantation is an effective treatment. However, the rareness of liver donation limits the liver transplantation. In this review, the screening, diagnosis and therapy of MSUD will be discussed.
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