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Primary hyperoxaluria type 2

MONDO:0009824

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, HP2, Oxalosis 2

4 clinical trials for this condition and its sub-types, 4 tagged with Primary hyperoxaluria type 2 itself.

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