/primary hyperoxaluria type 1

primary hyperoxaluria type 1

Rare Disease

MONDO:0009823

Also Known As

AGXT primary hyperoxaluriaPH1glycolic aciduriaperoxisomal alanine-glyoxylate aminotransferase deficiencyprimary hyperoxaluria caused by mutation in AGXTprimary hyperoxaluria type 1primary hyperoxaluria type IHP1Oxalosis 1alanine-glyoxylate aminotransferase deficiencyhepatic AGT deficiencyhyperoxaluria, primary, type 1hyperoxaluria, primary, type Iperoxisomal alanine glyoxylate aminotransferase deficiencyperoxisomal alanine:glyoxylate aminotransferase deficiencyserine pyruvate aminotransferase deficiencyserine:pyruvate aminotransferase deficiency

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.