Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria

Annals of Clinical Biochemistry
Oliver Clifford-MobleyGill Rumsby

Abstract

The primary hyperoxalurias are inherited disorders of glyoxylate metabolism, which cause over-production of oxalate leading to urolithiasis and subsequent renal failure. Other metabolites may be produced in excess in the different forms of PH: glycolate in PH1, glycerate in PH2 and 4-hydroxy-2-oxoglutarate and 2,4-dihydroxyglutarate in PH3. The aim of this study was to set up and validate a method for the simultaneous analysis of these metabolites in urine and to evaluate its use for preliminary identification of primary hyperoxaluria prior to definitive diagnosis by genetic testing. Urine samples were derivitized by methoximation and silylation and extracted into organic solvent prior to analysis by gas chromatography mass spectrometry. Recovery of the analytes spiked into urine ranged from 91 to 103% and total analytical imprecision ranged from 3.0 to 13.6%. 4-Hydroxy-2-oxoglutarate was unstable in urine at room temperature, and preservation by acidification was required. Mean urinary glycolate, glycerate and 4-hydroxy-2-oxoglutarate or 2,4-dihydroxyglutarate (expressed as a ratio to creatinine) were significantly higher in patients with PH1, PH2 and PH3, respectively. Low 4-hydroxy-2-oxoglutarate was observed in some patient...Continue Reading

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Citations

Nov 14, 2016·International Journal of Surgery·Gill Rumsby
May 1, 2018·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Lawrence GreedJames Pitt
Dec 12, 2018·Urolithiasis·David J SasDawn S Milliner
Mar 14, 2020·Clinical Journal of the American Society of Nephrology : CJASN·Dawn S MillinerJohn C Lieske
Jul 29, 2017·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Oliver Clifford-MobleySenthil Senniappan
May 23, 2021·British Journal of Clinical Pharmacology·Thomas A ForbesChengjung Lai

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