This showed a borderline decrease in the activity of galactose-1-phosphate uridyltransferase (GALT, or Gal-1-PUT).
Screens in the borderline range often indicate a heterozygote/carrier or mild variant of Galactosemia.
For more information, refer to the ADH letter AND Consult with ACH Metabolic Geneticist at 501-364-1100.
Refer to the health department (ADH) letter that was faxed to you and information at the ADH website. OR Call 501-364-4050 to speak with the Newborn Screening Coordinator or page at 501-364-1100.
This shows possible complete absent activity of galactose-1-phosphate uridyltransferase (GALT, or Gal-1-PUT).
This infant may have Classical Galactosemia. This is a serious, life-threatening condition, and an urgent response is required since infants with classic galactosemia can very quickly become acutely ill in the newborn period.
For questions about clinical evaluation, testing and follow up, call 501-364-4050 to speak with the Newborn Screening Coordinator or page at 501-364-1100.
For more information, refer to the health department (ADH) letter that was faxed to you and information at the ADH website.