Hyperoxaluria is a disorder characterized by complications of overproduction and subsequent tissue deposition of oxalate. The disorder occurs as a result of defective metabolism of glycolic acid. Hyperoxaluria may also develop secondarily due to increased intestinal absorption of oxalate.
Type I hyperoxaluria has a more severe disease course and generally presents as nephrocalcinosis and progresive uremia in children. Elevated oxalate levels are detectable in the blood and urine, and tissue deposits of oxalate crystals may be seen in the skin, liver, kidneys, and heart (sometimes leading to disruption of the conducting system). Type I disease is caused by a disruption in alanine:glyoxylate aminotransferase which metabolizes glycolic acid. In the absence of fully functioning enzyme, glycolic acid is instead metabolized to oxalate by lactate dehydrogenase. In type II hyperoxaluria, oxalosis is usually less severe and appears to be caused by a defect in d-glyceric...
- Hillman R (2000) Hyperoxaluria. In: Goldman L, Bennett J (eds) Cecil Textbook of Medicine, 21st ed. WB Saunders, Philadelphia, p 1090Google Scholar