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Follow-up of patients with maple syrup urine disease
Monitoring of dietary compliance for patients with maple syrup urine disease
-Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by the deficiency of the branched-chain ketoacid dehydrogenase (BCKDH) complex.
-Treatment of MSUD aims to normalize the concentration of BCAA by dietary restriction of these amino acids, and because BCAA belong to the essential amino acids, the dietary treatment requires frequent adjustment.
-This test is appropriate for follow-up and dietary monitoring of patients with MSUD.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)