/primary hyperoxaluria type 2

primary hyperoxaluria type 2

Rare Disease

MONDO:0009824

Also Known As

D-glycerate dehydrogenase deficiencyGRHPR primary hyperoxaluriaL-glyceric aciduriaprimary hyperoxaluria caused by mutation in GRHPRprimary hyperoxaluria type 2primary hyperoxaluria type IIHP2Oxalosis 2glyceric aciduriaglyoxylate reductase/hydroxypyruvate reductase deficiencyhyperoxaluria, primary, type 2hyperoxaluria, primary, type II

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.