Master's in Genetic Counseling (MGC)
Galactosemia 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 galactosemia in the state of Maryland is performed by two modified Hill assays; one for galactose-1-phosphate uridyl transferase and one for galactose and/or galactose-1-phosphate. Diagnostic testing consists of a quantitative transferase, kinase and/or epimerase assay, quantitative plasma galactose and galactose-1-phosphate levels, and possible DNA typing.
The follow-up recommendations for galactosemia screens in the state of Maryland are as follows:
| Newborn Screening Result | Interpretation | Follow-Up Action Recommended |
| transferase assay normal, galactose/galactose-1-phosphate <10 mg/dl | normal | none |
| transferase assay normal, galactose/galactose-1-phosphate 10-40 mg/dl | borderline | If the child is alert, feeding without vomiting, not jaundiced, without hepatomegaly, and behaving normally, obtain a urine sample for reducing substances within one week. If the urine reducing substances are negative, obtain a follow-up filter paper specimen. If the follow-up specimen is abnormal or borderline, refer the patient for genetic/metabolic consultation within one week, and report the patient to the Office for Hereditary Disorders at (410) 767-6730. If the urine reducing substances are positive or if the child is ill, immediately refer the patient for genetic/metabolic consultation and report the patient to the Office for Hereditary Disorders at (410) 767-6730. |
| transferase assay normal, galactose/galactose-1-phosphate >40 mg/dl | possible kinase or epimerase deficiency, or DG transferase variant | If the child is alert, feeding without vomiting, not jaundiced, without hepatomegaly, and behaving normally, obtain a urine sample for reducing substances within 24 hours. If the urine reducing substances are negative, refer the patient for genetic metabolic consultation within 48 hours. If the urine reducing substances are positive or if the child is ill, immediately refer patient for genetic/metabolic consultation. Report the patient to the Office for Hereditary Disorders at (410) 767-6730. |
| transferase assay abnormal, galactose/galactose-1-phosphate <10 mg/dl | borderline | If the child is alert, feeding without vomiting, not jaundiced, and behaving normally, obtain a urine sample for reducing substances within one week. If the urine reducing substances are negative, obtain a follow-up filter paper specimen. If the follow-up specimen is borderline or abnormal, refer the patient for genetic/metabolic consultation within 48 hours, and report the patient to the Office for Hereditary Disorders at (410) 767-6730. If the child is ill or if the urine reducing substances are positive, immediately refer for the patient for genetic/metabolic consultation and report the patient to the Office for Hereditary Disorders at (410) 767-6730. UNTREATED TRANSFERASE (CLASSICAL) GALACTOSEMIA MAY BE RAPIDLY FATAL. FALSE POSITIVE TRANSFERASE ASSAYS OCCUR MORE FREQUENTLY IN HOT, HUMID WEATHER. |
| transferase assay abnormal (or low florescence) and galactose/galactose-1-phosphate 10-20 mg/dl | possible transferase deficiency (D/G transferase variant, kinase or epimerase deficiency if low florescence) | If the child is alert, feeding without vomiting, not jaundiced, and behaving normally, obtain a urine sample for reducing substances within 48 hours. If the urine reducing substances are negative, refer the patient for genetic/metabolic consultation within 48 hours. If the child is ill or urine reducing substances are positive, immediately refer the patient for genetic/metabolic consultation and report the patient to the Office for Hereditary Disorders at (410) 767-6730. UNTREATED TRANSFERASE (CLASSICAL) GALACTOSEMIA MAY BE RAPIDLY FATAL. |
| transferase assay abnormal (or low florescence) and galactose/galactose-1-phosphate >20 mg/dl | probable transferase deficiency (D/G transferase variant, kinase or epimerase deficiency, if low florescence) | If the child is alert, feeding without vomiting, not jaundiced, and behaving normally, obtain a urine sample for reducing substances within 24 hours. If the urine reducing substances are negative, refer the patient for genetic/metabolic consultation within 24 hours. If the child is ill or urine reducing substances are positive, refer the patient for emergency genetic/metabolic consultation and report the patient to the Office for Hereditary Disorders at (410) 767-6730. UNTREATED TRANSFERASE (CLASSICAL) GALACTOSEMIA MAY BE RAPIDLY FATAL. |
NOTE: The adequacy of the galactose/galactose-1- phosphate assay depends upon the baby having had 24 hours of lactose containing feedings. The transferase assay is invalidated by transfusion. Transferase is a red cell enzyme.
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