Classical galactosemia in 9 days old newborn-a case report
Keywords:
galactosemia, newbornAbstract
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 , galactose epimerase or galactokinase. Both these deficiencies have their characteristic presentation. In this case report we describe a 9 days-old infant who presented with clinical symptoms highly suggestive of galatose-1-phosphate uridyl transferase deficiency.
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