Hyperoxaluria, Primary, Type I (HP1)

Hyperoxaluria, Primary, Type I (HP1)

OMIM number: 259900

Comments closing date: 11/04/2024

PH1 is caused by deficiency of a liver enzyme called alanine:glyoxylate-aminotransferase (AGT). This enzyme deficiency causes the liver to produce too much oxalate, which forms insoluble crystals that deposit within the urinary tract causing nephrolithiasis This leads in turn to a progressive decline in kidney function ultimately leading to end-stage renal disease (ESRD) and the need for dialysis and/or kidney transplantation. As kidney function worsens, the kidneys are no longer able to get rid of oxalate properly, crystals are deposited throughout various organs of the body including the bones, eyes, skin and heart. Crystals cause damage where they are deposited; systemic oxalosis.

Share information with the HFEA