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Article

Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.

Genetic testing and molecular biomarkers - 1 Apr 2024

Naguib Somayya, Mansour Lamiaa A, Soliman Neveen A, El-Hanafy Hadeel M, Fahmy Yosra A, Elmonem Mohamed A, Halim Radwa M Abdel

Abstract excerpt

Introduction: Approximately 80% of primary hyperoxaluria cases are caused by primary hyperoxaluria type 1 (PH1, OMIM# 259900), which is characterized by pathogenic variants in the AGXT gene, resulting in deficiency of the liver-specific enzyme alanine-glyoxylate aminotransferase (AGT). This leads to increased production of oxalate, which cannot be effectively eliminated from the body, resulting in its...

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PMID: 38657121
DOI: 10.1089/gtmb.2023.0525

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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