Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

@article{Pierce2011GarrodsFI,
  title={Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.},
  author={Sarah B Pierce and Cailyn H. Spurrell and Jessica B. Mandell and Ming Kai Lee and Sharon Zeligson and Michael Bereman and Sunday M. Stray and Siv Fokstuen and Michael J. MacCoss and Ephrat Levy-Lahad and M. -T. King and Arno G. Motulsky},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2011},
  volume={108 45},
  pages={18313-7}
}
Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but the mutations responsible for pentosuria remained unknown. Pentosuria, which affects almost exclusively individuals of Ashkenazi Jewish ancestry, is characterized by high levels of the pentose sugar L-xylulose in blood and urine and deficiency of the enzyme L… CONTINUE READING
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The Online Metabolic and Molecular Bases of Inherited Disease, www.ommbid.com

  • HH Hiatt
  • Pentosuria. Reprinted in Valle D,
  • 2011

A Short History of Medical Genetics (Oxford University Press, Oxford)

  • PS Harper
  • 2008

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