galactosemia

• Doença genética, geralmente autossômica recessiva, na qual o organismo não produz a enzima necessária para metabolizar a galactose, manifestando-se frequentemente logo após o nascimento.

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

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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.

   Distúrbio metabólico genético

   • 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.