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Ophthalmic follow‐up of patients with tyrosinaemia type I on NTBC
Author(s) -
Gissen P.,
Preece M. A.,
Willshaw H. A.,
McKiernan P. J.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1024011110116
Subject(s) - tyrosinemia , medicine , toxicity , tyrosine , biochemistry , chemistry
Summary: 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.