GALACTOSEMIA - A CASE REPORT

Galactosemia denotes the elevated level of galactose in the blood and is due to one of the following enzyme deficiencies - galactose-1-phosphate uridyl transferase, galactokinase, uridine diphosphate galactose -4-epimerase.Of the 3, classical galactosemia i.e. the deficiency of the galactose-1-phospate uridyl transferase is a serious disease with the onset of symptoms in the second half of the 1st week of life. We report a case of galactosemia.