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Article

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.

Molecular genetics and metabolism - 1 Jan 2000

Coulter-Mackie Marion B, Rumsby Gill

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease characterized by progressive kidney failure due to renal deposition of calcium oxalate. The disease is caused by a deficiency of alanine:glyoxylate aminotransferase (AGT) which catalyzes the conversion of glyoxylate to glycine. When AGT is absent, glyoxylate is converted to oxalate which forms insoluble calcium salts that accumulate in the...

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Source

Identifiers

PMID: 15464418
DOI: 10.1016/j.ymgme.2004.08.009

Genes

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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