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Article

Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.

Molecular genetics and metabolism - 1 Dec 2016

Isiyel Emel, Ezgu Sevcan A Bakkaloglu, Caliskan Salim, Akman Sema, Akil Ipek, Tabel Yilmaz, Akinci Nurver, Ozdogan Elif Bahat, Ozel Ahmet, Eroglu Fehime Kara, Ezgu Fatih S

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of AGXT gene encoding hepatic peroxisomal alanine glyoxylateaminotransferase (AGT). This enzyme is responsible for the conversion of glyoxylate to glycine. The diagnosis of PH1 should be suspected in infants and children with nephrocalcinosis or nephrolithiasis. Early diagnosis and treatment is crucial in preventing...

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Source

Identifiers

PMID: 27915025
DOI: 10.1016/j.ymgme.2016.10.011

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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Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.PMID 27915025Read ↗

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