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Tyrosinemia type III: diagnosis and ten‐year follow‐up
Author(s) -
Cerone R,
Holme E,
Schiaffino MC,
Caruso U,
Maritano L,
Romano C
Publication year - 1997
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1997.tb15192.x
Subject(s) - tyrosinemia , medicine , clinical phenotype , tyrosine , catabolism , urinary system , phenotype , metabolic disorder , pediatrics , endocrinology , gastroenterology , biochemistry , metabolism , biology , gene
Tyrosinemia type III, caused by deficiency of 4‐hydroxyphenylpyruvate dioxygenase, is a rare disorder of tyrosine catabolism. Primary 4‐hydroxyphenylpyruvate dioxygenase deficiency has been described in only three patients. The biochemical phenotype shows hypertyrosinemia and elevated urinary excretion of 4‐hydroxyphenyl derivatives. We report the clinical and biochemical findings and the results of long‐term follow‐up in a new patient with this disorder presenting with severe mental retardation and neurological abnormalities. The clinical phenotype is compared with those reported in the three previously described patients.