Outcome of Therapy of Hereditary Tyrosinemia

We diagnosed 21 patients with hereditary tyrosinemia in Norway; 14 of them had the diagnosis confirmed by enzyme studies. Five died in infancy before dietary treatment was introduced. Six developed hepatoma, between the ages of 3 ½- 20 years, three of them while on dietary treatment. Three died from causes other than hepatoma. Of the seven still alive at the time of writing, two received liver transplants, and one a kidney transplant, three are receiving dietary treatment and one is being managed without a special diet. Dietary treatment may be life-saving in acute cases. It improves the general condition in the chronic forms, improves tubular dysfunction and growth and may postpone develop ment of hepatoma. Liver transplantation is the only curative treatment, but difficulty remains in deciding the optimum time for transplantation; it should ideally be performed before hepatoma develops.