tyrosinemia

• 一种由酪氨酸代谢的常染色体隐性缺陷引起的医学病症，可导致肝肾功能障碍及智力障碍。

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

不可数

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.

   代谢性疾病

   • 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.