Tyrosinemia type III: diagnosis and ten‐year follow‐up

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Abstract
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.