tyrosinémie

Traductions

• anglais

  Auteur : Office québécois de la langue française, 1996

  Définition

  A hereditary, presumably recessive disorder due to a deficiency of p-hydroxyphenylpyruvic acid oxidase activity in the liver.

  Note :

  The condition has been reported from Japan, Scandanivia and the USA, but is most frequent in the French Canadian population. Early stages are marked by persistent tyrosinaemia and tyrosyluria. Between the ages of a few months and about four years, vomiting, diarrhoea, hepatomegaly, hypoglycaemia, vitamin D-resistant rickets, and failure to thrive become manifest. Multiple renal tubular defects and nodular cirrhosis are commonly associated. It is usually fatal under one year of age (acute form), but a few patients have reached adulthood (chronic form).

  Termes :

  1. tyrosinaemia
  2. hereditary tyrosinemia
  3. tyrosinosis

  Termes associés :

  1. hereditary tyrosinaemia
  2. Baber's syndrome critiqué
  3. atypical tyrosinosis critiqué
  4. genuine tyrosyluria critiqué
  5. hypermethioninaemia critiqué
  6. inborn hepatorenal dysfunction critiqué