title: Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC.
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.
authors.affiliation: Liver Unit, Birmingham Children's Hospital, Birmingham, UK. p.gissen@bham.ac.uk
authors.forename: P
authors.initials: P
authors.lastname: Gissen
authors.forename: M A
authors.initials: MA
authors.lastname: Preece
authors.forename: H A
authors.initials: HA
authors.lastname: Willshaw
authors.forename: P J
authors.initials: PJ
authors.lastname: McKiernan
mesh_terms: D002648:Child; D002675:Child, Preschool; D003318:Corneal Opacity / Q000139:chemically induced* / Q000453:epidemiology*; D003512:Cyclohexanones / Q000009:adverse effects* / Q000627:therapeutic use*; D004791:Enzyme Inhibitors / Q000009:adverse effects* / Q000627:therapeutic use*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009579:Nitrobenzoates / Q000009:adverse effects* / Q000627:therapeutic use*; D014443:Tyrosine / Q000097:blood; D020176:Tyrosinemias / Q000150:complications* / Q000188:drug therapy*
chemical_list: D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; D014443:Tyrosine; C077073:nitisinone