Progress in maple syrup urine disease
10.3760/cma.j.issn.1673-4408.2013.05.021
- VernacularTitle:枫糖尿症研究进展
- Author:
Guoqing FAN
- Publication Type:Journal Article
- Keywords:
Maple syrup urine disease;
Clinical phenotypes;
Genotypes;
Treatment
- From:
International Journal of Pediatrics
2013;40(5):514-517
- CountryChina
- 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.
