Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria.

@article{Brownlee2010ProductAA,
  title={Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria.},
  author={June M. Brownlee and Brian Heinz and Judith Bates and Graham R. Moran},
  journal={Biochemistry},
  year={2010},
  volume={49 33},
  pages={7218-26}
}
Hawkinsinuria is a severe inherited condition that has a significant impact on the health of infants. The disease manifests as metabolic acidosis that significantly slows the growth rate and induces persistent diarrhea and vomiting. Though other causes may exist, an autosomal dominant mutation that alters codon 241 of the 4-hydroxyphenylpyruvate dioxygenase (HPPD) gene from encoding an asparagine to encoding a serine gives rise to the symptoms of the disease. The observed pattern of dominance… CONTINUE READING

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4-Hydroxyphenylpyruvate dioxygenase

  • G. R. Moran
  • Arch. Biochem. Biophys
  • 2005

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