lysinemia

• 赖氨酸血症是一种先天性代谢缺陷病，因某些酶缺乏导致赖氨酸无法正常分解，从而引起肌无力、智力障碍等症状。

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.

不可数

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.

   代谢紊乱

   • 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.