tyrosinemia

• Медицинское состояние, вызванное аутосомно-рецессивным дефектом метаболизма тирозина, приводящее к нарушениям работы печени и почек, а также к умственной отсталости.

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

неисчисляемое

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.

   Метаболическое расстройство

   • 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.