Tyrosinemia II

  • Y. de Prost
  • J. M. Saudubray
Conference paper


Tyrosinemia is a hereditary disease caused by a deficiency of hepatic cytosolic aminotransferase. The main clinical signs are corneal erosions and ulcerations associated with hyperkeratosis of the palms and soles [1–3, 5]. Plasma tyrosine, urinary tyrosine, and urinary tyrosine derivatives are increased. Transmission is autosomal recessive.


Tyrosine Aminotransferase Ocular Lesion Corneal Erosion Plasma Tyrosine Main Clinical Sign 
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Copyright information

© Springer-Verlag Berlin Heidelberg 1987

Authors and Affiliations

  • Y. de Prost
    • 1
  • J. M. Saudubray
    • 2
  1. 1.Hôpital Necker Enfants MaladesUnité de DermatologieParisFrance
  2. 2.Service de Génétique et métabolisme chez l’enfantHôpital Necker Enfants MaladesParisFrance

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