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À propos de : Unusual Presentation of Galactosemia in a 4-month-old Child        

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  • Unusual Presentation of Galactosemia in a 4-month-old Child
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  • Galactosemia is a rare inborn error of metabolism, which if detected can be treated effectively. Galactosemia can occur due to the deficiency of either galatose-1-phosphate uridyl transferase (GLUT) or galactokinase. Both these deficiencies have their characteristic presentation. In this case report we describe a 4-month-old infant who presented with clinical symptoms highly suggestive of GLUT deficiency but on investigation turned out to be galactokinase deficiency.
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