4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.

  title={4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.},
  author={J. Pitt and F. Willis and N. Tzanakos and R. Belostotsky and Y. Frishberg},
  journal={JIMD reports},
  • J. Pitt, F. Willis, +2 authors Y. Frishberg
  • Published 2015
  • Medicine
  • JIMD reports
  • Primary hyperoxaluria type 3 (PH3) is a recently identified inborn error of 4-hydroxyproline metabolism causing kidney stone disease. Diagnosis to date has relied on mutation detection. The excretion of 4-hydroxyglutamate (4OHGlu) was investigated in controls and a cohort of nine patients with PH3 and their parents using flow injection tandem mass spectrometry. 4OHGlu was stable in acidified urine samples and was not influenced by diet. Its measurement was readily incorporated into an existing… CONTINUE READING
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