phenylketonuria

• Maladie métabolique génétique caractérisée par l'absence de l'enzyme nécessaire à la conversion de la phénylalanine en tyrosine, entraînant une accumulation de phénylalanine dans les fluides corporels et pouvant provoquer divers degrés de déficience intellectuelle.

A genetic metabolic disorder characterized by the absence of an enzyme required to convert phenylalanine into tyrosine, leading to an accumulation of phenylalanine in body fluids and potentially causing varying degrees of intellectual disability.

indénombrable

1. Genetic metabolic disorderC2formalmedical

   A rare inherited condition where the body cannot break down the amino acid phenylalanine, leading to its buildup and potential brain damage if untreated.

   Phénylcétonurie

   • Newborns are routinely screened for phenylketonuria.
   • A strict low-protein diet is essential for managing phenylketonuria.
   • Untreated phenylketonuria can cause severe intellectual disability.

   Synonymespku