lysinemia

• Affection médicale due à une erreur innée du métabolisme, caractérisée par un déficit de certaines enzymes empêchant la dégradation correcte de l'acide aminé lysine, entraînant des symptômes tels qu'une faiblesse musculaire et un retard mental.

A medical condition resulting from an inborn error of metabolism, characterized by a deficiency of specific enzymes that prevents the proper breakdown of the amino acid lysine, leading to symptoms such as muscular weakness and intellectual disability.

indénombrable

1. C2formalmedical

   A rare inherited metabolic disorder caused by a deficiency of enzymes needed to break down the amino acid lysine, resulting in its accumulation in the body.

   lysinémie (trouble métabolique)

   • The newborn was diagnosed with lysinemia through routine screening.
   • Symptoms of lysinemia can include muscular weakness and developmental delays.
   • Treatment for lysinemia often involves a specialized low-lysine diet.