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Up to: Primary hyperoxaluria · Alanine glyoxylate aminotransferase deficiency
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.
This condition has no sub-types.