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Tyrosinemia Type 11: A Challenge for Ophthalmologists and Dermatologists
Author(s) -
Benoldi Donata,
Orsoni Jelka B.,
Allegra Fulvio
Publication year - 1997
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1997.tb00215.x
Subject(s) - tyrosinemia , medicine , photophobia , pediatrics , dermatology , tyrosine , surgery , physics , nuclear magnetic resonance
Tyrosinemia type 11 was suspected in a 13‐month‐old chiid with recurrent photophobia, tearing, and hyperkeratotic lesions on the paims and soles. Laboratory tests revealed high tyrosine leveis in blood and urine, AH the symptotns promptly Improved after the institution of a iow tyrosine diet. We emphasize the importance of an early diagnosis In order to avoid the risk of mental retardation in these patients.