Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III

@article{Retschi2000MutationsIT,
  title={Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III},
  author={U. J. R{\"u}etschi and Roberto Cerone and Celia P{\'e}rez-Cerd{\'a} and Maria Cristina Schiaffino and S. J. Standing and Magdalena Ugarte and Elisabeth Holme},
  journal={Human Genetics},
  year={2000},
  volume={106},
  pages={654-662}
}
Tyrosinemia type III (OMIM 276710) is an autosomal recessive disorder caused by the deficiency of 4-hydroxyphenylpyruvate dioxygenase (HPD), the second enzyme in the tyrosine catabolic pathway. The enzyme deficiency results in an accumulation and increased excretion of tyrosine and phenolic metabolites. Only a few cases with the disorder have been described… CONTINUE READING