Master's in Genetic Counseling (MGC)
Biotinidase Deficiency 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 biotinidase deficiency in the state of Maryland is performed by a colorimetric assay to determine the presence or absence of the biotinidase enzyme. A quantitative biotinidase assay by a consultant (Dr. Blitzer or Dr. Cowan, University of Maryland Medical System) is required for diagnostic testing.
The follow-up recommendations for biotinidase deficiency screens in the state of Maryland are as follows:
| Newborn Screening Result | Interpretation | Follow-Up Action Recommended |
| purple | normal | none |
| straw colored | possible biotinidase deficiency | A follow-up filter paper specimen is required within one week. If the follow-up specimen is abnormal, referral to Dr. Blitzer or Dr. Cowan is required within one week. Report the patient to the Office for Hereditary Disorders at (410) 767-6730. |
| straw colored x 2 | probable biotinidase deficiency | Referral to Dr. Blitzer or Dr. Cowan is required within one week. Report the patient to the Office for Hereditary Disorders at (410) 767-6730. |
NOTE: This test is invalidated by transfusion. Biotinidase is a red cell enzyme.
Return to Biotinidase Deficiency / State Screening Program Contacts / Maryland Consultants
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