lysinemia

• Медицинское состояние, вызванное врождённой ошибкой метаболизма, характеризующееся дефицитом определённых ферментов, который препятствует правильному расщеплению аминокислоты лизина, приводя к таким симптомам, как мышечная слабость и умственная отсталость.

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.

uncountable

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.

   Метаболическое расстройство

   • 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.