S307 Primary Hyperoxaluria type 1 (PH1)

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Breed:  Zwartbles
Sample material:  Blood EDTA, Blood Heparin, Semen, Swab, Tissue


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Primary Hyperoxaluria type 1 (PH1) is a disease that causes an accumulation of calcium oxalate in the urine. The disease is caused due to a missense variant mutation in the AGXT gene. Affected sheep lack levels of specific enzymes that normaly prevents the accumulation of oxalate.

This variant of the disease has been found in the Zwartbles sheep, and is caused by a recessive mutation to the gene AGXT.


Chromosome: 1

Gene: AGXT

Mode of Inheritance: Autosomal Recessive

Organ: Urinary system

Sub-organ: Kidney


Year published: 2020

Clinical Features

Hyperoxaluria results in recurrent episodes of kidney and urinary stones and associated complications such as pain and urinary tract infections, which causes symptoms of general unease and poor apetite due to pain. In extreme cases, kidney stones can lead to kidney failure, which is life-threatening and may necessitate euthanasia or an early slaughter of the affected animal.


Omia: 1672

Pubmed: 33003365