The effects of early treatment of hereditary tyrosinemia type I in infancy by orthotopic liver transplantation

Transplantation. 1990 May;49(5):916-21. doi: 10.1097/00007890-199005000-00017.

Abstract

Two infants with hereditary tyrosinemia secondary to fumarylacetoacetate hydrolase (FAH) deficiency underwent orthotopic liver transplantation at 14 and 16 weeks of age due to poor clinical and biochemical response to medical therapy. Prompt clearance of abnormal metabolites with improved mental alertness and appetite occurred with minimal perioperative complications. Both infants tolerated rapid institution of normal diets and have shown progressive growth and development in the first 36 months after transplantation. Early liver transplantation should be considered as an option for infants with certain inherited metabolic disorders with poor prognosis, such as tyrosinemia type I, who fail to respond to medical therapy.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / surgery*
  • Humans
  • Hydrolases / deficiency*
  • Infant
  • Liver Transplantation / methods*
  • Porphobilinogen Synthase / antagonists & inhibitors
  • Time Factors
  • Tyrosine / blood*

Substances

  • Tyrosine
  • Hydrolases
  • fumarylacetoacetase
  • Porphobilinogen Synthase