GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY

Course overview

GALACTOSEMIA IS AN INBORN ERROR OF METABOLISM DUE TO IMPAIRED DEGRADATION OF GALACTOSE. IF NOT RECOGNIZED AND TREATED PROMPTLY, AFFECTED INFANTS MAY DEVELOP SIGNIFICANT MORBIDITY WITHIN DAYS OF BIRTH. NEWBORN SCREENING TESTS IN DEVELOPED COUNTRIES HAVE HELPED IDENTIFY AFFECTED INFANTS EARLY. HOWEVER, PROVIDERS MUST MAINTAIN A HIGH INDEX OF SUSPICION IN ILL NEWBORNS AS FEEDING INTOLERANCE, HEPATOMEGALY, LETHARGY, COAGULOPATHY, AND RENAL DYSFUNCTION MAY OCCUR WITHIN THE FIRST FEW DAYS OF LIFE, EVEN BEFORE NEWBORN SCREENING TESTS HAVE BEEN FINALIZED. THIS ACTIVITY REVIEWS THE WORKUP OF A PATIENT WITH SUSPECTED GALACTOSEMIA AND THE ROLE OF THE INTERPROFESSIONAL TEAM IN MANAGING THIS CONDITION.