tyrosinemia

• Condição médica causada por um defeito autossômico recessivo no metabolismo da tirosina, levando a problemas no fígado e nos rins, bem como a deficiência intelectual.

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

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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.

   Distúrbio metabólico

   • 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.