Primary hyperoxaluria (PH)

The primary hyperoxaluria (PH) is a rare genetic disorder of the glyoxylate metabolism. Formation... more
Заболевание
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.
Порода
котон-де-тулеар
Тип наследования
autosomal recessive
Длительность теста
1-2 weeks after arrival of the sample in the lab
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