Primary hyperoxaluria (PH)

LABOKLIN Service ID: 8321

The primary hyperoxaluria (PH) is a rare genetic disorder of the glyoxylate metabolism, which is necessary for the formation of endogenous glucose. Due to a point mutation the expression of the metabolic enzymes alanine-glyoxylate aminotransferase and glyoxylate reductase is decreased. Accumulation of oxalate and formation of calcium oxalate crystals in the urinary organs are a result of this disturbance. The resulting crystals are also taken up by the kidney tissue and can lead to decreased renal function.

Method	sequencing
Breed list	Coton de Tuléar
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab