Master's in Genetic Counseling (MGC)

Tyrosinemia 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 tyrosinemia in the state of Maryland is performed by the Guthrie bacterial bioassay to determine the level of tyrosine in the dried filter paper blood spot. A quantitative plasma amino acid profile and a blood spot for succinylacetone are required for diagnostic testing.

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

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
tyrosine <12 mg/dl	normal	none
tyrosine=12 mg/dl	borderline	A follow-up filter paper specimen is required within one week. If the follow-up specimen is abnormal, a plasma amino acid profile and genetic/metabolic consultation are required within one week. Report the patient to the Office for Hereditary Disorders at (410) 767-6730.
tyrosine >12 mg/dl	possible tyrosinemia	A quantitative plasma amino acid profile and genetic/metabolic consultation are required within one week. Report the patient to the Office for Hereditary Disorders at (410) 767-6730.

NOTE: This test is not performed on initial specimens drawn in the first 7 days of life. This test is only done on subsequent specimens or on initial specimens which were drawn after 7 days of age.

Return to Tyrosinemia / State Screening Program Contacts / Maryland Consultants

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