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Article

Mutations in <i>HAO1</i> encoding glycolate oxidase cause isolated glycolic aciduria

4 Jul 2014

Abstract excerpt

BACKGROUND: The primary hyperoxalurias are a group of recessive kidney diseases, characterised by extensive accumulation of calcium oxalate that progressively coalesces into kidney stones. Oxalate overproduction is facilitated by perturbations in the metabolism of glyoxylate, the product of glycolate oxidation, and the immediate precursor of oxalate. Glycolic aciduria associated with hyperoxaluria is regarded as...

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PMID: 24996905
DOI: 10.1136/jmedgenet-2014-102529

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