
ABOUT PRIMARY HYPEROXALURIA TYPE 1 (PH1):
It’s okay to have questions.
You may be overwhelmed to receive a diagnosis of primary hyperoxaluria type 1 (PH1) and want to know more about what it means to have this disease. The good news is you aren't alone. This is a resource for answers to common questions about PH1.
What is PH1?
Primary hyperoxaluria is a rare, inherited disease that causes the overproduction of oxalate. Normally, oxalate is present only in small amounts, is not used by the body for anything, and needs to be eliminated by the kidneys.
PH1 Perspectives: Describing PH1

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Why is oxalate overproduced in primary hyperoxaluria type 1 (PH1)?
In PH1, oxalate is overproduced due to a broken process that involves the liver enzymes glycolate oxidase (GO) and alanine:glyoxylate aminotransferase (AGT). Enzymes are molecules that help your body make or break down substances. Watch how this happens, below:

Oxalate is a waste product that cannot be further broken down or used by the body, and is primarily eliminated by the kidneys.
What can happen when oxalate is overproduced?
In PH1, oxalate is constantly being overproduced by the liver, and the kidneys cannot keep up with removing it. Watch the video below to understand how damage can occur.

Oxalate is constantly overproduced and can cause continuous damage that gets worse over time. Diagnosing PH1 as early as possible can help you take steps to manage it.
What are the signs of PH1 to look for?
Although kidney stones are the most common, and often the first symptom of PH1, not all people with PH1 will have stones. When you have PH1, your kidneys are at risk for damage even if you are not getting stones.
In fact, PH1 may present in a number of ways:
Having any kidney stones,
even only one, as a child
Having repeated kidney stone episodes (recurrent kidney stones)
Nephrocalcinosis (finding crystals in kidney tissue during a renal evaluation)
End-stage renal disease (kidney failure)
Failure to thrive
(not growing sufficiently as a baby)
PH1 Perspectives: Journey to Diagnosis

There was just blood in his urine.
He had
no other symptoms, but you could see that he was in pain. I remember he had a lot of stones in his kidney when he first got diagnosed.
Build a personalized PH1 discussion guide
If you or a relative of yours has a history of kidney stones, or other reasons to believe you could have PH1, you can answer 6 quick questions to receive a personalized discussion guide. Once completed, you can bring it to your healthcare provider to discuss if you or your loved one should be tested for PH1.
Or you can download, print, and answer the PH1 discussion guide questions.
What are some of the symptoms I could experience?
Kidney stone symptoms can include:
- Pain in the side of the body
- Dysuria (painful urination)
- Hematuria (blood in the urine)
- Urinary tract infections (UTIs)
If you think you are experiencing these symptoms, consider contacting your doctor or a urologist.
Symptoms of end-stage renal disease (ESRD) can include:
- Producing little or no urine
- Feeling ill and tired
- Loss of appetite, nausea, and vomiting
- Pale skin color
- Swelling of the hands and feet
- In PH1, decreased kidney function that can lead to oxalate depositing throughout the body
If you think you are experiencing these symptoms, consider contacting your doctor or a nephrologist. By keeping track of your kidney health, you and your doctor can make more informed decisions.
Can someone in my family have PH1, too?
PH1 is a recessive disease that is passed down within families. That's why it is important that family members, especially siblings, of a person with PH1 consider getting tested for the disease.
PH1 Perspectives: Experience with Genetic Testing


PH1 Handbook
You can customize and download your own PH1 Handbook, which provides an overview of PH1 management, monitoring, and more.
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