3 of 3. For a recessive disease, a child whose parents are both carriers will have a 25% chance of developing the disease, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. Introduction primary hyperoxaluria type 2 (ph2) is caused by mutations in the grhpr gene that encodes an enzyme that normally prevents the harmful molecule oxalate from accumulating in the body. Individuals with ph2 produce and excrete too much oxalate, which results in kidney stones and organ damage. Fewer than one in 1,000,000 people has ph2, although the exact prevalence of this disorder is not known. Symptoms of primary hyperoxaluria type 2 people with ph2 typically present with oxalate-containing kidney stones during childhood. Although some individuals are not diagnosed until later in life, they may have had some symptom.
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