galactosemia

• Angeborene Stoffwechselstörung, meist autosomal-rezessiv vererbt, bei der ein für den Abbau von Galaktose notwendiges Enzym fehlt und die sich häufig bald nach der Geburt zeigt.

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.

   Genetische Stoffwechselerkrankung

   • 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.