tyrosinemia

• Tyrosinämie ist eine autosomal-rezessiv vererbte Stoffwechselstörung, bei der der Abbau der Aminosäure Tyrosin gestört ist. Sie führt zu Leberschäden, Nierenschäden und geistiger Behinderung.

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

unzählbar

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.

   Stoffwechselstörung

   • 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.