Master's in Genetic Counseling (MGC)

Maple Syrup Urine Disease Screening in Delaware

Screening for MSUD in the state of Delaware is performed by a bacterial inhibition assay to estimate the level of leucine in the dried blood spot. Normal leucine levels are <4 mg/dl. Even a transient elevation of leucine in the newborn period is unusual, unless the infant is preterm and/or receiving IV amino acid preparations. A liquid blood sample is required for diagnostic testing.

The follow-up recommendations for MSUD screens in the state of Delaware are as follows:

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
leucine <4 mg/dl	normal	none
leucine >4mg/dl, other amino acids elevated	abnormal result	The infant should be examined and a repeat filter paper sample obtained within 24 hours. If the repeat specimen is abnormal, definitive testing is recommended.
leucine >4 mg/dl, other amino acids normal	abnormal result	The infant should be examined and definitive testing should be performed within 24 hours. If the definitive testing is abnormal, the diagnosis is confirmed and referral to a regional metabolic center is recommended.

NOTE: Referral to a metabolic clinic is strongly recommended for assistance in definitive diagnosis, treatment, and follow-up of the disorder. Metabolic clinics are available in Philadelphia (St. Christopher's Hospital and Children's Hospital of Philadelphia) or Baltimore (University of Maryland and Johns Hopkins Hospital).

 

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