lysinemia

• Condição médica causada por um erro inato do metabolismo, caracterizada pela deficiência de certas enzimas que impede a decomposição adequada do aminoácido lisina, levando a sintomas como fraqueza muscular e deficiência intelectual.

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.

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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.

   Distúrbio metabólico

   • 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.