tyrosinemia

• Enfermedad metabólica hereditaria causada por un defecto en la enzima que degrada el aminoácido tirosina, lo que provoca acumulación tóxica de esta sustancia y daño hepático, renal y neurológico, incluyendo retraso mental en algunos tipos.

A medical condition resulting from an autosomal recessive defect in tyrosine metabolism, leading to liver and kidney disturbances as well as mental retardation.

incontable

1. Metabolic disorderC2formalmedical

   An inherited condition caused by a defect in the breakdown of the amino acid tyrosine, leading to its accumulation and causing liver and kidney problems as well as potential intellectual disability.

   tirosinemia

   • The newborn screening test can detect tyrosinemia early.
   • Treatment for tyrosinemia often involves a special diet and medication.
   • Untreated tyrosinemia can lead to severe liver damage.