International Journal of Pediatrics 2013;40(5):514-517

doi:10.3760/cma.j.issn.1673-4408.2013.05.021

Progress in maple syrup urine disease

Guoqing FAN

Keywords

Maple syrup urine disease; Clinical phenotypes; Genotypes; Treatment

Country

China

Language

Chinese

Abstract

Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism presenting with life threatening encephalopathy and maple syrup odor in urine in affected individuals.Blood levels of branched-chain amino acids(BCAA) significantly increase.It is classified into 5 forms according to the clinical course,and classified 4 molecular phenotypes based on the affected locus of the branched chain αr-ketoacid dehydrogenase complex.Treatment of MSUD is divided into acute decompensation stage treatment and life-long dietary restriction treatment.