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Article

A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.

Journal of genetics - 1 Sept 2016

M'Dimegh Saoussen, Aquaviva-Bourdain Cécile, Omezzine Asma, M'Barek Ibtihel, Souche Geneviéve, Zellama Dorsaf, Abidi Kamel, Achour Abdelattif, Gargah Tahar, Abroug Saoussen, Bouslama Ali

Abstract excerpt

Primary hyperoxaluria type I (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine : glyoxylate aminotransferase (AGT) which is deficient or mistargeted to mitochondria. PH1 shows considerable phenotypic and genotypic heterogeneity. The incidence and severity of PH1 varies in different geographic regions. DNA samples of the affected...

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Identifiers

PMID: 27659337
DOI: 10.1007/s12041-016-0676-4

Genes

AGXT
AGT

Variants

Provenance

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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