
Galactose-1-Phosphate Uridyl Transferase Deficiency
GALT Deficiency
📋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.
Found an Error?
Help us keep this information accurate. If you notice any incorrect details, please submit a correction request.