lysinemia

• Condición médica causada por un error congénito del metabolismo, caracterizada por un déficit de ciertas enzimas que impide la descomposición correcta del aminoácido lisina, lo que provoca síntomas como debilidad muscular y retraso 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.

incontable

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.

   lisinemia

   • 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.