Primary hyperoxaluria type 2
Primary hyperoxaluria type 2
Definition
Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.
Also known as D-glycerate dehydrogenase deficiency, GRHPR primary hyperoxaluria, L-glyceric aciduria, primary hyperoxaluria caused by mutation in GRHPR, primary hyperoxaluria type 2, primary hyperoxaluria type II — per MONDO