lysinemia

• Lysinämie ist eine angeborene Stoffwechselstörung, bei der ein Enzymmangel den Abbau der Aminosäure Lysin beeinträchtigt und dadurch Symptome wie Muskelschwäche und geistige Behinderung verursachen kann. Sie zählt zu den Hyperlysinämien.

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.

unzählbar

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.

   Stoffwechselstörung

   • 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.