Progress in maple syrup urine disease / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 514-517, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-441188
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
International Journal of Pediatrics
Year:
2013
Type:
Article
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