Dataset Information
Three cases of xanthinuria identified by gas chromatography/mass spectrometry-based urine metabolomics.
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ABSTRACT: Introduction
Early diagnosis of patients with urolithiasis or hypouricemia owing to inborn errors of hypoxanthine metabolism is important in preventing renal failure or drug-induced toxicity.Case presentation
We identified three patients with xanthinuria using gas chromatography/mass spectrometry-based urine metabolomics: a 72-year-old male with bladder stone, a severe hypouricemic 59-year-old female with type 2 diabetes mellitus, and an 8-year and 9-month-old female who was first discovered to harbor a mutation in the xanthine dehydrogenase gene using whole-exome sequencing, but had a normal molybdenum cofactor sulfurase gene. Hydantoin-5-propionate was detected in the first and third patients but not in the second, suggesting that the first and second patients had type I and II xanthinuria, respectively.Conclusion
Gas chromatography/mass spectrometry-based metabolomics can be used for undiagnosed patients with xanthinuria, identification of the type of xanthinuria without allopurinol loading, and the quick functional evaluation of mutations in the xanthinuria-related genes.
SUBMITTER: Kuhara T
PROVIDER: S-EPMC10622199 | biostudies-literature | 2023 Nov
REPOSITORIES: biostudies-literature
Publications
Three cases of xanthinuria identified by gas chromatography/mass spectrometry-based urine metabolomics.
IJU case reports 20230928 6
<h4>Introduction</h4>Early diagnosis of patients with urolithiasis or hypouricemia owing to inborn errors of hypoxanthine metabolism is important in preventing renal failure or drug-induced toxicity.<h4>Case presentation</h4>We identified three patients with xanthinuria using gas chromatography/mass spectrometry-based urine metabolomics: a 72-year-old male with bladder stone, a severe hypouricemic 59-year-old female with type 2 diabetes mellitus, and an 8-year and 9-month-old female who was firs ...[more]