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intermediate maple syrup urine disease

Disease Summary
Associated Targets (5)
Tbio

4

Tchem

1


Mondo Description Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.
Mondo Term and Equivalent IDs
MONDO:0017052:  intermediate maple syrup urine disease
Orphanet:268162: 
SCTID:405287008: