Primary hyperoxaluria type 1
Other Names for this Disease
- Oxalosis 1
- Glycolic aciduria
- Alanine-glyoxylate aminotransferase deficiency
- Peroxisomal alanine glyoxylate aminotransferase deficiency
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.
- Genetics Home Reference (GHR) contains information on Primary hyperoxaluria type 1. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Primary hyperoxaluria type 1. Click on the link to view a sample search on this topic.