Master's in Genetic Counseling (MGC)

Maple Syrup Urine Disease Screening in Maryland

The state of Maryland has a two specimen screening protocol. The initial specimen is drawn after the baby has had 24 hours of protein containing feedings, and the subsequent specimen is usually drawn between one and four weeks of age.

Screening for MSUD in the state of Maryland is performed by the Guthrie bacterial bioassay to determine the level of leucine in the dried filter paper blood spot. A quantitative plasma amino acid profile is required for diagnostic testing.

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

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
leucine <2 mg/dl	normal	none
leucine 2-4 mg/dl	borderline	If the child is alert, feeding well without vomiting, acting normally, and neither the urine nor the cerumen smells like maple syrup, obtain a urine sample for ketones. If the urine is negative for ketones, a follow-up filter paper specimen is required within 48 hours. If the repeat specimen is abnormal, a quantitative amino acid profile and genetic/metabolic consultation are required within 24 hours. If the child is not perfectly well, or if urine ketones are positive, an amino acid profile and genetic/metabolic consultation are required immediately. Report the patient to the Office for Hereditary Disorders at (410) 767-6730. UNTREATED MSUD MAY BE RAPIDLY FATAL.
leucine >4 mg/dl	probable MSUD	If the child is alert, feeding well without vomiting, acting normally, and neither the urine nor the cerumen smells like maple syrup, obtain a urine sample for ketones. If urine is negative for ketones, a quantitative amino acid profile and genetic/metabolic consultation are required within 24 hours. If child is not perfectly well, or if urine ketones are positive, an amino acid profile and genetic/metabolic consultation are required immediately. Report the patient to the Office for Hereditary Disorders at (410) 767-6730. UNTREATED MSUD MAY BE RAPIDLY FATAL.

NOTE: The adequacy of this test depends on the baby having had 24 hours of protein containing feedings.

 

Return to MSUD / State Screening Program Contacts / Maryland Consultants