C81325Level 8
Transferase Deficiency Galactosemia
**Semantic type:** Disease or Syndrome
**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.
**Synonyms:** - Transferase Deficient Galactosemia - Transferase-deficient Galactosemia
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