Amino Acids, Maple Syrup Urine Disease Panel, Plasma
Use
This test is useful for the follow-up of patients with maple syrup urine disease (MSUD) and for monitoring dietary compliance. MSUD is an inborn error of metabolism characterized by a deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKDH) complex, affecting the metabolism of branched-chain amino acids: isoleucine, leucine, and valine. Early diagnosis and dietary management are critical to prevent severe intellectual disabilities, metabolic intoxication, and other serious complications associated with the disease.
Special Instructions
Not provided.
Limitations
This test should not be used with body fluids other than plasma. It is specifically designed for plasma and requires fasting prior to collection for accurate results. Hemolysis, lipemia, or icterus in the specimen are acceptable; however, improper collection and handling may interfere with test results. It is not FDA approved or cleared but developed in accordance with CLIA requirements.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 94566-7 - MSUD therapy monitor Pnl SerPl
- 94567-5 - Valine p diet SerPl-sCnc
- 94568-3 - Isoleucine p diet SerPl-sCnc
- 94569-1 - Leucine p diet SerPl-sCnc
- 94570-9 - Alloisoleucine p diet SerPl-sCnc
- 49247-0 - Amino acid Pat SerPl-Imp
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.5 mL
Minimum Volume
0.3 mL
Container
Plastic vial
Collection Instructions
Collect specimen and place on wet ice. Centrifuge immediately or within 4 hours of collection if specimen is kept at refrigerated temperature. Ensure no buffy coat is transferred. Aliquot plasma into a plastic vial and freeze.
Patient Preparation
Fasting: 4 hours, required; infants should have specimen collected before next feeding (2-3 hours without TPN if possible).
Storage Instructions
Freeze sample, stable for 14 days at frozen temperature.
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 14 days |