Catalog

Primary hyperoxaluria type 2

No MMS code

Link to WHO Definition

Primary hyperoxaluria type 2 – http://id.who.int/icd/entity/347920969

Primary hyperoxaluria type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase. It is characterised by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.