An Infant with Galactosemia: A Case Report

This is the authors' abstract. We don't add key points for this paper.

Classic galactosemia is a rare inborn error of galactose metabolism which is caused by a deficiency of an enzyme known as galactose-1-phosphate uridyl transferase (GALT). A 4-month-old male infant presented with yellowish discoloration of the skin and eyes (jaundice) and clay-colored stools. On examination, the baby has normal development and no signs of chronic liver disease. Blood tests and ultrasound show raised bilirubin and liver enzymes, but no structural abnormality or biliary atresia. However, urine sugar chromatography detected galactose and lactose, and a direct enzyme assay confirmed a deficiency of galactose-1-phosphate uridyl transferase. The patient was treated with a galactosemia-based diet, non-lactose milk, and vitamin supplements and showed improvement. The patient is currently on follow-up for monitoring.