DOI: 10.36347/sjmcr.2015.v03i12.003

Pages: 1150-1153

Classical Galactocemiain a fifty day old male child, obscured by the concomitant presence of TORCH infection -A Case Report. Galactosemia is a rare metabolic disorder with autosomal recessive inheritance due to deficiency of one of the three enzyme needed for galactose metabolism. Classical galactosemia results from deficiency of enzyme galactose-1-phosphate uridyl transferase (GALT).Its incidence varies greatly among different ethnic groups, manifesting in the new born period with persistent jaundice, failure to thrive, diarrhoea, vomiting, septicaemia, hepatosplenomegaly, and cataract, mortality is high if diagnosed late or left untreated . In a case report A fifty day old male baby born to 30 consanguineous parents, was admitted with complaints of vomiting, jaundice, dull activity and abdominal distention on and off since 4th day of life. There was history of hospitalization twice in the neonatal period for jaundice during which he was diagnosed as congenital rubella syndrome based on positive torch profile and presence of bilateral cataract. On admission in our hospital the child appeared malnourished with pallor, icterus, pedal oedema and bilateral nuclear cataract. His urine for GCMS demonstrated high level of galactose.The levels of galactose-1-phosphate in erythrocytes was elevated (36mg/dl), with decreased quantitative GALT enzyme assay (1.0 U/g Hb) thus confirming the diagnosis of galactosemia.