Galactosemia: Clinical Manifestations, Diagnosis and Outcome of Early Management

Objectives of study: To see variable clinical manifestations of patients with galactosemia, accuracy of screening test employed at our centre, its relation to specific enzyme analysis and outcome of these patients in regards to early removal of galactose from diet. Duration of study: 20/04/2012 – 14/08/2014 two years and four months . Place of study: Department Of Pediatric Gastroenterology Hepatology at The Children’s Hospital and Institute of Child Health. Lahore Material and Methods: It was a prospective, observational study. A total number of 22 patients diagnosed with galactosemia were included. Urine for reducing substance (Benedict Test) and dipstick for glucosuria was done. Diagnosis was confirmed by enzyme analysis GAL-1-PUT assay. Results: Patients had mean age 112 days with a range from 8 - 510 days out of these 14 (63.6%) were male while 8 (36.4%) were females. All patients had low GAL -1-PUT activity. Serum bilirubin Mean = 9.2193, range 0.20 – 34 mg/dl serum ALT Mean= 159.60, range 19 – 654, Serum GGT Mean=17.6667, range 12 – 22. Cataract was seen in 3(13.6%), central nervous manifestations was observed in 3 (13.6%), hepatomegaly was present in 22 (100%), splenomegaly was present in only 5(22.7%), ascites in 16(72.7%), hemolysis in 6(27.2%), sepsis in 13 (59%) blood culture grew E. coli in 8(36.3%) staphylococcus aureus in 1 (4.5%). Urine for reducing sugars was positive in 21(95.4%) while dip stick was negative in all. All patients improved after institution of galactose free diet and supportive care. Infections were treated with antibiotics and patient improved and discharged within mean time of 10 days. Jaundice, visceromegaly, liver enzymes were normalized in mean time of one month period in all patients. Conclusion: Common mode of presentation of galactosemia was with jaundice, hepatomegaly, ascites, hyperbilirubinemia, hypertransaminasemia and sepsis. Urine for reducing substances combined with Dipstick for glucosuria is highly effective test for the diagnosis of Galactosemia and results closely correlate with GAL-1-PUT assay. The outcome of properly treated children seems to be good and showed rapid improvements in symptoms and signs after restriction of galactose.