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

Secondary ID A test code used for billing and in test definitions created prior to November 2011

60200

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

Conditional

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

Highlights

-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)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Amino Acid, MSUD Panel, P

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

Allo-Isoleucine
Isoleucine
Leucine
Maple Syrup Urine Disease (MSUD)
MSUD (Maple Syrup Urine Disease)
Valine
Maple Syrup Disease

Key