J Pediatr Gastroenterol Nutr 1991 Jul;13(1):10-5

Early liver transplantation is indicated for tyrosinemia type I

Freese DK, Tuchman M, Schwarzenberg SJ, Sharp HL, Rank JM, Bloomer JR, Ascher
NL, Payne WD

Abstract
Liver transplantation is now accepted as the treatment of choice for tyrosinemia
type I (hereditary tyrosinemia). In an effort to determine whether any factors
in these patients would aid in predicting optimal timing of the transplant
procedure, we evaluated several clinical, biochemical, and radiographic
parameters in five successive patients undergoing liver transplant for
tyrosinemia type I at the University of Minnesota. All five patients evidenced
prolonged periods of clinical and metabolic stability with dietary therapy and
four of five remained stable at the time of evaluation for transplantation.
Nevertheless, all five suffered significant and unexpected complications of
tyrosinemia prior to the time of liver transplant. Four developed renal stones,
two were in liver failure, and one developed a neurologic crisis that left him
completely paralyzed. Hepatocellular carcinoma was found in one of the five at
transplant. We could identify no clinical, biochemical, or radiographic study
that was predictive of the likelihood of significant complications of the
disorder. Survival from the transplant procedure itself was 100%. The inability
to predict or prevent significant complications of tyrosinemia and the favorable
outcome from transplantation lead us to recommend liver transplant for all
patients with tyrosinemia type I by 12 months of age