BCHE基因复合杂合突变致先天性丁酰胆碱酯酶缺乏症一例

Compound heterozygous mutations in the BCHE gene in a child with butyrylcholinesterase deficiency: A case report

丁酰胆碱酯酶是一种丝氨酸水解酶,可催化胆碱酯类的水解,包括肌肉松弛剂琥珀酰胆碱和米伐库铵。丁酰胆碱酯酶缺乏可能导致麻醉后呼吸暂停。先天性丁酰胆碱酯酶缺乏症是由于位于3号染色体(3q26.1)上的BCHE基因突变引起,多位点的复合杂合突变可能致病。

Butyrylcholinesterase is a serine hydrolase that catalyzes the hydrolysis of cholinesterases, including the muscle relaxants succinylcholine and mivaronium. Butyrylcholinesterase deficiency may lead to apnea after anesthesia. Congenital butanediocholinesterase deficiency is caused by a mutation in the BCHE gene on chromosome 3(3q26.1), and compound heterozygous mutations may be pathogenic.