Primary hyperoxaluria type 2

Disease Overview

Primary hyperoxaluria type 2  is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.[5725]

Synonyms

• HP2
• Oxalosis 2
• Glyoxylate reductase/hydroxypyruvate reductase deficiency
• Glyceric aciduria
• D-glycerate dehydrogenase deficiency