Advances on the research of 3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaric aciduria is a rare organic aciduria inherited by autosomal recessive trait.It is caused by the mutations in 3-hydroxy-3-methylglutaryl-CoA lyase gene.The clinical onset usually occurs in the neonatal and infant period.In recent years, with the development of technology for screening inherited metabolic diseases, the number of children with 3-hydroxy-3- methylglutaric aciduria are increasing.The incidence of this disease is about 1∶100 000 in reports of Europe and the United States.The incidence in China is unknown.In this paper, the advances on pathogenesis, clinical manifestations, diagnosis and treatment of 3-hydroxy- 3-methylglutaric aciduria will be reviewed so as to improve the understanding of this disease and provide reference for its clinical diagnosis and treatment. Key words: 3-hydroxy-3-methylglutaric aciduria; Organic aciduria; Inherited metabolic diseases; Advances