Primary hyperoxaluria (PH)
The primary hyperoxaluria (PH) is a rare genetic disorder of the glyoxylate metabolism. Formation... more
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.
1-2 weeks after arrival of the sample in the lab