Three cases of xanthinuria identified by gas chromatography/mass spectrometry-based urine metabolomics.

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

SUBMITTER: Kuhara T 

PROVIDER: S-EPMC10622199 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature