Primary hyperoxaluria (PH)
Primary hyperoxaluria (PH)
General description
The primary hyperoxaluria (PH) is a rare genetic disorder of the glyoxylate metabolism. Formation of calcium oxalate crystals in the urinary organs are a result of this disturbance.
Breeds
Coton de Tuléar
Order details
| Test number | 8321 |
| Abbreviation | PH |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | urological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | AGXT |
| Mutation | G-A |
| Literature | OMIA:001672-9615 |
Detailed description
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.
