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

Acta Paediatr. 1997 Sep;86(9):1013-5. doi: 10.1111/j.1651-2227.1997.tb15192.x.

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.

Publication types

  • Case Reports

MeSH terms

  • 4-Hydroxyphenylpyruvate Dioxygenase / deficiency*
  • Adolescent
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / diet therapy
  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Amino Acids / administration & dosage
  • Biopsy, Needle
  • Child
  • Child, Preschool
  • Drug Combinations
  • Follow-Up Studies
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / diet therapy
  • Intellectual Disability / enzymology
  • Liver / enzymology
  • Liver / pathology
  • Male
  • Minerals / administration & dosage
  • Neurologic Examination
  • Tyrosine / administration & dosage
  • Tyrosine / blood*
  • Vitamins / administration & dosage

Substances

  • Amino Acids
  • Drug Combinations
  • Milupa
  • Minerals
  • Vitamins
  • Tyrosine
  • 4-Hydroxyphenylpyruvate Dioxygenase