Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC.
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.
Gissen
P
P
Liver Unit, Birmingham Children's Hospital, Birmingham, UK. p.gissen@bham.ac.uk
Preece
M A
MA
Willshaw
H A
HA
McKiernan
P J
PJ
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*
D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; D014443:Tyrosine; C077073:nitisinone