" /> Transferase Deficiency Galactosemia - CISMeF





Preferred Label : Transferase Deficiency Galactosemia;

NCIt synonyms : Transferase-deficient Galactosemia;

NCIt related terms : Transferase Deficient Galactosemia;

NCIt definition : A disorder characterized by the body's inability to metabolize galactose. This type of galactosemia is caused by germline mutations in the GALT gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase.;

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29/07/2025


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