Primary hyperoxaluria type 1
Primary hyperoxaluria type 1
Definition
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, glycolic aciduria, peroxisomal alanine-glyoxylate aminotransferase deficiency, PH1, primary hyperoxaluria caused by mutation in AGXT, primary hyperoxaluria type 1, primary hyperoxaluria type I — per MONDO