Title: A Study of Galactosemia from a Tertiary Care Centre
Author: Sujay Chaudhuri
Objectives: Galactosemia is an inborn error of carbohydrate metabolism manifesting in neonatal period. It causes early cirrhosis in infancy, hence early detection and management are of great importance. In the present study we observed various clinical and investigational profile of galactosemia in a tertiary care centre.
Methods: Various clinical manifestations and investigational profile and outcome of galactosemic children admitted in pediatric Gastroenterology at PGIMER, Chandigarh were recorded and analysed. Ultrasound of abdomen and HIDA scan were done to rule out EHBA. Hemogram, blood culture, LFT, coagulogram, work up for intrauterine infections were carried out. Urinary examination for reducing substabces, eye checkup, liver biopsy and enzyme assay were done in all cases.
Results: Nineteen children of galactosemia were seen from June 1993 to June 2003. Age of onset of symptoms was 3-25 days of life. Males were 12 (63%) and females were 7 (36%). Cholestatic jaundice was present in all 19 infants manifesting as clay colored stool and high colored urine staining diaper. Hepatomegaly was present in 5/19 (26%), hepatosplenomegaly in 14/19 (74%), ascites in 9/19 (47%), seizure in 3/19 (15%), sepsis in 1/19 (05%) , renal tubular acidosis in 2/19 (10%) and hypoglycemia in 5/19 (26%) infants. Five infants died. Conjugated bilirubin was raised in all infants, transaminitis was present in 11/19 (57%) and coagulopathy in 9/19 (47%) infants. Liver biopsy was suggestive of galactosemia in all. Urinary reducing substance was positive in 15/19 (79%), cataract was present in 7/19 (36%) cases. Galactose 1-phosphate uridy1 transferase enzyme deficiency was detected in all 19 cases. Urine analysis for renal tubular acidosis was positive in 2 infants. 14 infants were put on galactose free diet and all improved.
Conclusion: Galactosemia is an uncommon but important cause of metabolic liver disease in early infancy. High degree of suspicion and early detection are mandatory for better outcome, since these children require galactose free diet.