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Article

Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).

Journal of inherited metabolic disease - 1 Sept 1997

Tarn A C, von Schnakenburg C, Rumsby G

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder of glyoxylate metabolism caused by deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). The disease shows considerable phenotypic, enzymatic and genetic heterogeneity. To date, 7 polymorphisms...

Topics

Adolescent
Adult
Child
Child, Preschool
Female
Humans
Hyperoxaluria
Infant
Male
Middle Aged
Mutation
Polymorphism, Genetic
Transaminases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 9323564
DOI: 10.1023/a:1005326510239

Genes

AGT
AGXT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9323564-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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