Galactose-1-Phosphate Uridyl Transferase Deficiency
GALT Deficiency
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📋Overview
Galactose-1-phosphate uridyl transferase deficiency is the classic form of galactosemia, a rare inherited metabolic disorder characterized by the body's inability to properly metabolize galactose due to deficient activity of the enzyme galactose-1-phosphate uridyl transferase (GALT). This leads to accumulation of toxic substances causing damage to multiple organs. The modern preferred term is classic galactosemia.
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