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Article

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.

Journal of inherited metabolic disease - 1 Jan 1994

Danpure C J, Jennings P R, Fryer P, Purdue P E, Allsop J

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease caused by a deficiency of the liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT). The disease is notable for its extensive heterogeneity at the clinical, biochemical, enzymic and molecular genetic levels. A study of 116 PH1 patients over the past 8 years has revealed four main enzymic phenotypes: (1) absence of both AGT...

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Identifiers

PMID: 7967498
DOI: 10.1007/BF00711363

Genes

AGT

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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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Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.PMID 7967498Read ↗

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Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.Semantic proximity Read ↗

Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.Semantic proximity Read ↗

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