Early liver transplantation is indicated for tyrosinemia type I.
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.
Freese
D K
DK
Department of Pediatrics, University of Minnesota, Minneapolis 55455.
Tuchman
M
M
Schwarzenberg
S J
SJ
Sharp
H L
HL
Rank
J M
JM
Bloomer
J R
JR
Ascher
N L
NL
Payne
W D
WD
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000150:complications*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000097:blood / Q000209:etiology / Q000601:surgery*; D016031:Liver Transplantation; D008297:Male; D013997:Time Factors; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine