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Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.

Nephrology (Carlton, Vic.) - 1 Jan 2025

Hashmi Jamil A, Afzal Sibtan, Balahmar Reham M, Latif Muhammad, Basit Sulman

Abstract excerpt

AIM: Autosomal recessive primary hyperoxalurias (PH) are genetic disorders characterised by elevated oxalate production. Mutations in genes involved in glycoxylate metabolism are the underlying cause of PH. Type 1 PH (PH1) results in malfunctioning of alanine-glyoxylate aminotransferase enzymes of liver due to a change in the genetic sequence of alanine-glyoxylate aminotransferase (AGXT) gene. We encountered a...

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PMID: 39746862
DOI: 10.1111/nep.14423

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