Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC

J Inherit Metab Dis. 2003;26(1):13-6. doi: 10.1023/a:1024011110116.

Abstract

NTBC has revolutionized the management of tyrosinaemia type I, although animal experiments have shown that long-term administration may produce corneal opacities analogous to those in tyrosinaemia type II. We have assessed the prevalence of ocular side-effects in 11 tyrosinaemia type I patients on NTBC attending the Birmingham Children's Hospital. Despite high plasma tyrosine concentrations in some patients, they did not experience symptoms or signs of ocular toxicity.

Publication types

  • Clinical Trial

MeSH terms

  • Child
  • Child, Preschool
  • Corneal Opacity / chemically induced*
  • Corneal Opacity / epidemiology*
  • Cyclohexanones / adverse effects*
  • Cyclohexanones / therapeutic use*
  • Enzyme Inhibitors / adverse effects*
  • Enzyme Inhibitors / therapeutic use*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Nitrobenzoates / adverse effects*
  • Nitrobenzoates / therapeutic use*
  • Tyrosine / blood
  • Tyrosinemias / complications*
  • Tyrosinemias / drug therapy*

Substances

  • Cyclohexanones
  • Enzyme Inhibitors
  • Nitrobenzoates
  • Tyrosine
  • nitisinone