Test Catalog

Test ID: AAMSD    
Amino Acids, Maple Syrup Urine Disease Panel, Plasma

Useful For Suggests clinical disorders or settings where the test may be helpful

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.

Method Name A short description of the method used to perform the test

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Amino Acid, MSUD Panel, P

Aliases Lists additional common names for a test, as an aid in searching

Maple Syrup Urine Disease (MSUD)
MSUD (Maple Syrup Urine Disease)
Maple Syrup Disease