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Maple Syrup Urine Syndrome (DBS)

Alternate test name

MSUD= Maple Syrup Urine Disease, DBS for BCAA (Dried blood spot for branched chain amino acids), namely Alloisoleucine, Isoleucine, Leucine and Valine.

Lab area
Clinical Biochemistry - Metabolic Diseases
Method and equipment
Quantitation of branched chain amino acids (valine, leucine, isoleucine, alloisoleucine) following derivatization, measurement by UPLC
Expected turn-around time
10 days
Specimen type

Dried Blood Spot

Specimen requirements

Saturated filter paper circle. Recommend 2 full circles on a Specimen Collection Card.

Storage and transportation

Allow sample to completely air dry before shipping at room temperature.

Special requirements

One full circle on the blood dot collection card should be fully saturated front to back with blood to be acceptable.

Shipping information
The Hospital for Sick Children
Rapid Response Laboratory
555 University Avenue, Room 3642
Toronto, ON
M5G 1X8
Phone: 416-813-7200
Toll Free: 1-855-381-3212
Hours: 7 days/week, 24 hours/day
Background and clinical significance

Elevated branched chain amino acids (valine, leucine and isoleucine) occurring with the stereoisomer alloisoleucine is consistent with Maple Syrup Urine Disease (MSUD). Monitoring of blood concentrations is important for the effective management of this metabolic disorder. Dried blood spots provide an effective mechanism for sample transport allowing collections to occur outside of a clinical setting.

Disease condition

Maple Syrup Urine Disease, MSUD

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