tyrosinemia

• Maladie métabolique héréditaire due à un déficit enzymatique dans le métabolisme de la tyrosine, entraînant des troubles hépatiques et rénaux ainsi qu'un retard mental.

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

indénombrable

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.

   Tyrosinémie

   • 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.