Primary hyperoxaluria type 1

A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.

Also known as: AGXT primary hyperoxaluria, PH1, glycolic aciduria, peroxisomal alanine-glyoxylate aminotransferase deficiency, primary hyperoxaluria caused by mutation in AGXT, primary hyperoxaluria type 1, primary hyperoxaluria type I, HP1

11 clinical trials for this condition and its sub-types, 10 tagged with Primary hyperoxaluria type 1 itself.