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GRHPR gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GRHPR gene

The GRHPR gene provides instructions for an enzyme that prevents the buildup of harmful substances by converting glyoxylate and hydroxypyruvate.

Normal Function

The GRHPR gene provides instructions for making an enzyme called glyoxylate and hydroxypyruvate reductase. This enzyme plays a role in preventing the buildup of a potentially harmful substance called glyoxylate by converting it to a substance called glycolate, which is easily excreted from the body. Additionally, this enzyme can convert a compound called hydroxypyruvate to D-glycerate, which is eventually converted to the simple sugar glucose and used for energy.

Health Conditions Related to Genetic Changes

Primary hyperoxaluria

More than 25 mutations in the GRHPR gene have been found to cause primary hyperoxaluria type 2. This condition is caused by the overproduction of a substance called oxalate. Excess amounts of this substance lead to kidney and bladder stones, which begin in childhood and often result in kidney disease by early adulthood. Deposition of oxalate in multiple other tissues throughout the body (systemic oxalosis) can cause additional health problems.

GRHPR gene mutations either disrupt production of the glyoxylate and hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent or severely reduced and the conversion of glyoxylate to glycolate is impaired. Glyoxylate builds up and is converted to a compound called oxalate. The oxalate is filtered through the kidneys and is either excreted in urine as a waste product or combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Increased oxalate levels in the blood can lead to systemic oxalosis, particularly affecting bones and the walls of blood vessels.

Other Names for This Gene

  • D-glycerate dehydrogenase
  • GLXR
  • glyoxylate reductase/hydroxypyruvate reductase
  • GRHPR_HUMAN
  • PH2

Frequently Asked Questions

The earliest and most common signs of primary hyperoxaluria type 2 (PH2), caused by GRHPR gene mutations, are recurrent kidney stones and bladder stones, often beginning in childhood. Symptoms can include severe flank pain, blood in the urine, frequent urination, and urinary tract infections. These stones can lead to kidney damage and, if untreated, progress to kidney disease.
Treatment for PH2 focuses on reducing oxalate levels and preventing stone formation. This often involves a high fluid intake to dilute urine and medications like potassium citrate to increase urine pH and inhibit stone formation. In some cases, vitamin B6 (pyridoxine) may be tried, although it is less effective for PH2 than for other types of hyperoxaluria. For advanced kidney disease, dialysis or kidney transplantation may be necessary, sometimes combined with liver transplantation to address the underlying enzyme deficiency.
Yes, primary hyperoxaluria type 2 (PH2) is an inherited genetic disorder. It is passed down in an autosomal recessive pattern, meaning an individual must inherit two mutated copies of the GRHPR gene, one from each parent, to develop the condition. Parents who each carry one mutated copy are typically unaffected but have a 25% chance with each pregnancy of having a child with PH2.
If not effectively managed, the persistent overproduction and accumulation of oxalate in PH2 can lead to severe long-term complications. These include chronic kidney disease and eventual kidney failure. Beyond the kidneys, oxalate can deposit in other tissues throughout the body, a condition called systemic oxalosis, which can affect bones, blood vessels, heart, and eyes, causing additional health problems.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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