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

Canada

M5G 1X8

Phone: 416-813-7200

Toll Free: 1-855-381-3212

Hours: 7 days/week, 24 hours/day

Requisition

Maple Syrup Urine Syndrome (DBS) - requisition

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