Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

@article{Kuilenburg2007ClinicalBA,
  title={Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.},
  author={Andr{\'e} B P van Kuilenburg and Judith E M Meijer and Doreen Dobritzsch and Rutger J Meinsma and M. X. Pe{\~n}a Dur{\'a}n and Bernhard Lohkamp and Lida Zoetekouw and Nico Ggm Abeling and Herman L G van Tinteren and Annet Maria Bosch},
  journal={Molecular genetics and metabolism},
  year={2007},
  volume={91 2},
  pages={
          157-64
        }
}
Dihydropyrimidinase (DHP) is the second enzyme of the pyrimidine degradation pathway and it catalyses the ring opening of 5,6-dihydrouracil and 5,6-dihydrothymine to N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid, respectively. To date, only nine individuals have been reported suffering from a complete DHP deficiency. We report two siblings presenting with strongly elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in plasma, cerebrospinal fluid and urine. One of the… CONTINUE READING
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