galactosemia

• Maladie génétique, généralement autosomique récessive, caractérisée par l'absence d'une enzyme nécessaire à la dégradation du galactose, se manifestant souvent peu après la naissance.

A genetic disorder, typically autosomal recessive, in which the body lacks the enzyme needed to break down galactose, often appearing shortly after birth.

indénombrable

1. Genetic metabolic disorderC2formalmedical

   A rare genetic condition where the body cannot properly break down galactose, a sugar found in milk and dairy products, due to a missing or deficient enzyme.

   Galactosémie

   • Newborns are routinely screened for galactosemia.
   • A strict galactose-free diet is the primary treatment for galactosemia.
   • Untreated galactosemia can lead to serious complications like liver damage and intellectual disability.