Maple Syrup Urine Syndrome (DBS)
MSUD= Maple Syrup Urine Disease, DBS for BCAA (Dried blood spot for branched chain amino acids), namely Alloisoleucine, Isoleucine, Leucine and Valine.
Dried Blood Spot
Saturated filter paper circle. Recommend 2 full circles on a Specimen Collection Card.
Allow sample to completely air dry before shipping at room temperature.
One full circle on the blood dot collection card should be fully saturated front to back with blood to be acceptable.
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.
Maple Syrup Urine Disease, MSUD
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