intermediate maple syrup urine disease
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:0009563
maple syrup urine disease
is_a
Intermediate BCKD deficiency
exact
Intermediate MSUD
exact
Intermediate branched-chain 2-ketoacid dehydrogenase deficiency
exact
Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency
exact
intermediate maple syrup urine disease
exact
SPAC4A8.03c