Primary hyperoxaluria type 1
Other Names for this Disease
- Alanine-glyoxylate aminotransferase deficiency
- Glycolic aciduria
- Hepatic AGT deficiency
- Oxalosis 1
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kidney failure, a state termed oxalosis. Affected organs can include bones, joints (oxalate arthropathy) heart, eyes, and skin. PH1 is due to a defect of the liver enzyme angiotensinogen (AGT) caused by mutations in the AGXT gene. The defect in AGT results in an increase of the glyoxylate pool, which is converted to oxalate (poorly soluble) and glycolate. Clinical diagnosis is made based on the symptoms, the stone composition of oxalate, creatinine ratio, molecular genetic testing and infrequently by liver biopsy. Early treatment is essential for maintaining kidney function. Treatment involves minimizing calcium oxalate deposition before kidney failure by inducing urination and by giving vitamin B6 (pyridoxine) and calcium-oxalate crystallization inhibitors (citrate, pyrophosphate, and magnesium).Primary hyperoxaluria type 1 (PH1) is a rare disorder characterized by the accumulation of oxalate. People affected with this condition may have only some crisis of kidney stones or more severe problems. Since oxalate is eliminated by the kidney, it accumulates throughout the body in cases of
Last updated: 10/1/2015
- Lorenz EC, Michet CJ, Milliner DS & Lieske JC. Update on oxalate crystal disease. Curr Rheumatol Rep. 2013 Jul;.. July, 2013; 15(7):340. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710657/. Accessed 10/1/2015.
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