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Article

[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene].

Nederlands tijdschrift voor geneeskunde - 29 Jul 2006

van Woerden C S, Groothof J W, Wanders R J A, Waterham H R, Wijburg F R

Abstract excerpt

Primary hyperoxaluria type I (PH1) is a congenital defect in glyoxylate metabolism caused by a deficiency in the liver-specific peroxisomal enzyme known as alanine glyoxylate aminotransferase (AGT). The deficiency is due to mutations in the AGXT gene, located on chromosome 2q37.3, and results in the conversion of glyoxylate to oxalate. The crystallisation of oxalate with calcium results in symptoms varying from a...

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Identifiers

PMID: 16922352

Genes

AGXT
AGT

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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