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GALACTOSEMIA - A CASE REPORT

Journal: University Journal of Surgery and Surgical Specialities (Vol.5, No. 7)

Publication Date:

Authors : ;

Page : 124-125

Keywords : Galactosemia; Galactose; Metabolic Diseases; Inborn Error of Metabolism;

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Abstract

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.

Last modified: 2019-09-03 20:45:40