中文摘要：

Wilson disease is an autosomal recessive disorder ofcopper metabolism that can cause fatal neurologicaland hepatic disease if not diagnosed and treated. Theyoungest child with normal liver function reported sofar is an 8-mo-old Japanese boy with low ceruloplasminlevels, and the youngest child with elevated aminotransferaseever reported so far is a 9-mo-old Koreanboy with confirmed by genetic testing. Here we reportan 8-mo-old Chinese boy presented with elevated liverenzymes, and low serum ceruloplasmin level. Geneticanalysis of ATP7B gene detected two heterozygousdisease causing mutations （c.2621C〉T/p.A874V andc.3809A〉G/p.N1270S）, and parental origins weredetermined. Persistent elevation of serum aminotransferasein this infant was normalized after zinctherapy. To our best knowledge, this is the youngestpatient with elevated liver enzymes ever reportedworldwide. We hope that this will raise awarenessamong pediatricians, leading to earlier diagnosis,timely treatment, and better clinical outcome.