Genetics Home Reference Your Guide to Understanding Genetic Conditions Hereditary xanthinuria

@inproceedings{Simmonds2004GeneticsHR,
  title={Genetics Home Reference Your Guide to Understanding Genetic Conditions Hereditary xanthinuria},
  author={H. Anne Simmonds},
  year={2004}
}
Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the kidneys and other tissues. In the kidneys, xanthine forms tiny crystals that occasionally build up to create kidney stones. These stones can impair kidney function and ultimately cause kidney failure. Related signs and symptoms can… CONTINUE READING

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Mutation in the human molybden cofactor sulpharase gene is responsble for classical xanthinuria type 11

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