About Primary Hyperoxaluria
Primary hyperoxaluria type 1 is an autosomal recessive disorder caused by deficiency of the liver enzyme alanine-glyoxylate aminotransferase (AGT), encoded by the AGXT gene. Without functional AGT, glyoxylate is not properly converted to glycine and instead is oxidized to oxalate. The liver continuously overproduces oxalate, which is excreted by the kidneys. As urinary oxalate exceeds the saturation threshold, calcium oxalate crystals form, causing recurrent nephrolithiasis (kidney stones) and progressive nephrocalcinosis.
As kidney function declines, the kidneys become unable to clear the excess oxalate, leading to systemic oxalosis where calcium oxalate deposits accumulate in bones, blood vessels, skin, retina, heart, and other organs. Without treatment, PH1 typically progresses to end-stage kidney disease, often requiring combined liver-kidney transplantation. Alnylam's OXLUMO (lumasiran), an RNAi therapy that silences the HAO1 gene to reduce oxalate production, was FDA-approved in 2020 and has dramatically changed the treatment paradigm. Lumasiran reduces urinary oxalate by approximately 65% and can potentially prevent kidney failure when started early. Conservative measures including high fluid intake and citrate supplementation remain important adjuncts.
Common Symptoms of Primary Hyperoxaluria
Recognizing the signs of Primary Hyperoxaluria early can lead to faster diagnosis and better outcomes. Symptoms may vary in severity from person to person. If you or a loved one are experiencing any of the following, consider speaking with a specialist.
- Recurrent kidney stones, often starting in childhood
- Blood in the urine
- Severe abdominal or flank pain from kidney stones
- Recurrent urinary tract infections
- Progressive kidney disease that may lead to kidney failure
- In advanced cases, oxalate deposits in bones, eyes, heart, and skin (systemic oxalosis)
Who Primary Hyperoxaluria Affects
Can present from infancy through adulthood, though most cases of PH1 are diagnosed in childhood or adolescence. Affects males and females equally. Autosomal recessive inheritance. More common in certain populations in the Middle East and North Africa. Estimated that up to 50% of cases remain undiagnosed.
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FDA-Approved Treatments for Primary Hyperoxaluria
There is currently 1 FDA-approved medication for Primary Hyperoxaluria. These therapies represent the current standard of care and may be used alongside or compared against investigational treatments in active clinical trials.
Source: openFDA drug labeling data. This list may not include all treatments. Always consult your doctor.
Help Paying for Primary Hyperoxaluria Treatment
Charity funds and drugmaker programs for Primary Hyperoxaluria, checked at the source. Pick your insurance to see what fits.
- From a charity · HealthWell FoundationHyperoxaluria fundOpen
Pays for: Copays, premiums or other treatment costs.
- From a charity · The Assistance FundPrimary Hyperoxaluria fundWaitlist
Pays for: Copays, coinsurance, deductibles and other health-related expenses.
The foundation says: “WAITLIST — Accepting Waitlist Patients. TAF is currently accepting requests to join the enrollment waitlist for this program. Waitlists a…”
Side Effect Explorer
Real-world side effect reports from the FDA Adverse Event Reporting System (FAERS). Includes both FDA-approved drugs and investigational therapies from active clinical trials. Click any drug to see what patients reported.
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Genetic Testing
Genetic testing can confirm a diagnosis, guide treatment decisions, and identify family members who may be at risk.
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Trusted Primary Hyperoxaluria Resources
Reputable organizations and medical references for learning more about Primary Hyperoxaluria, including disease registries, foundation resources, and clinical guidelines.
