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.
Original language | English |
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Pages (from-to) | 1013-1015 |
Number of pages | 3 |
Journal | Acta Paediatrica, International Journal of Paediatrics |
Volume | 86 |
Issue number | 9 |
Publication status | Published - 1997 |
Keywords
- 4-Hydroxyphenylpyruvate dioxygenase deficiency
- Tyrosinemia type III
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health