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Primary Hyperoxaluria

Description

Primary hyperoxaluria (PH) is a rare (8.5%) autosomal recessive disorder of glyoxylate metabolism in the Coton du Tulear. It is characterized by the accumulation of oxalate and subsequent precipitation of calcium oxalate crystals, primarily in the kidneys. Deficiencies in glyoxylate?metabolizing enzymes alanine?glyoxylate aminotransferase (AGXT) or glyoxylate reductase/hydroxypyruvate reductase (GRHPR) occur in 95% of PH cases.

Recommended Breeding

Diseases

Primary Hyperoxaluria

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Associated Breed(s):

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Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Gene:

LOC100855679 (AGXT) on Chromosome 25

Variant Detected:

Base Substitution c.996G>A p.Gly102Ser

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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