Outcome in tyrosinaemia type II.
Tyrosinaemia type II was diagnosed in a boy with failure to thrive and in his sister on neonatal screening. On diet the outcome, at 12 and 10 years respectively, has been excellent in respect of oculocutaneous sequelae, growth, and psychomotor development, contrasting with the generally unfavourable outcome in most reported cases.
Barr
D G
DG
Royal Hospital for Sick Children, Edinburgh.
Kirk
J M
JM
Laing
S C
SC
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy* / Q000523:psychology; D002657:Child Development; D002675:Child, Preschool; D003231:Conjunctivitis / Q000517:prevention & control; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007360:Intelligence; D008297:Male; D010649:Phenylalanine / Q000097:blood; D014443:Tyrosine / Q000008:administration & dosage / Q000097:blood*
D014443:Tyrosine; D010649:Phenylalanine