Primary Hyperoxaluria Type 2

Primary Hyperoxaluria Type 2 (PH2) is a rare inherited disorder of glyoxylate metabolism that leads to overproduction of oxalate by the liver. Oxalate is normally a waste product excreted by the kidneys, but when produced in excess, it combines with calcium to form calcium oxalate crystals that cause kidney stones and can lead to kidney damage and failure.

PH2 is generally milder than the more common Primary Hyperoxaluria Type 1 (PH1). Symptoms typically begin in childhood or adolescence with recurrent kidney stones (nephrolithiasis). In some cases, calcium oxalate crystals can deposit throughout the kidney tissue (nephrocalcinosis), progressively damaging the kidneys. About 20% of individuals with PH2 eventually develop kidney failure.

When kidney function declines significantly, the body can no longer eliminate oxalate effectively. Oxalate then deposits in tissues throughout the body (systemic oxalosis), affecting bones, eyes, heart, and other organs. However, systemic oxalosis is less common in PH2 than in PH1 due to the generally milder course.

PH2 is caused by mutations in the GRHPR gene, which encodes glyoxylate reductase/hydroxypyruvate reductase. The condition is inherited in an autosomal recessive pattern. Treatment focuses on high fluid intake to prevent stone formation, vitamin B6 supplementation (helpful in some cases), and medications to reduce crystal formation. Unlike PH1, liver transplantation does not cure PH2 because the deficient enzyme is expressed in many tissues.

NutraHacker examines the following gene related to Primary Hyperoxaluria Type 2:

• GRHPR

For more information about your own genetic profile as related to Primary Hyperoxaluria Type 2, please check out our NutraHacker Carrier Status and Drug Response Report.

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