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An Indispensible Parameters of Galactose-1-Phosphate Uridyl Transferase Deficiency Include Etiology, Epidemiology, Patho Physiology, Toxico Kinetics, Diagnosis, Differential Diagnosis, Treatment and Prognosis

Muralinath E., Guruprasad M., Madhavi Latha C., Sheethal U., Rajitha V., Manohar U., Srinadh G., Rohitha K.

Abstract


Due to poor galactose breakdown, galactosemia is an inborn metabolic defect. Affected babies may exhibit severe morbidity within days of birth if they are not recognized and treated promptly. In wealthy nations, newborn screening tests have helped identify afflicted infants early. In any case, even before newborn screening tests are finalized, feeding intolerance, hepatomegaly, lethargy, coagulopathy, and renal dysfunction can occur in the first few days of life, thus healthcare professionals must keep a high index of suspicion in sick babies. The workup of a patient with probable galactosemia and the interprofessional team's role in managing this ailment are described in this exercise.


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