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PH1, PH2, and PH3, the 3 known primary hyperoxaluria (PH) subtypes, are caused by missing or malfunctioning enzymes

Each of the 3 known PH subtypes is caused by a genetic mutation that keeps the liver from making a specific enzyme.

PH1

Caused by genetic mutation resulting in missing or malfunctioning

AGT enzyme

PH2

Caused by genetic mutation resulting in missing or malfunctioning

GRHPR enzyme

PH3

Caused by genetic mutation resulting in missing or malfunctioning

HOGA enzyme

 

Why are these missing enzymes a problem?

When one of these enzymes is missing or malfunctioning, it causes glyoxylate to build up in the liver.
 

Another liver enzyme called lactate dehydrogenase (LDH) converts this glyoxylate into excessive levels of oxalate.

Why is extra oxalate a problem?
 

All this extra oxalate makes its way to the kidneys, where it combines with calcium, creating calcium oxalate crystals. These crystals build up in the kidneys, causing damage and kidney stones.

PH subtypes, symptom onset, and disease progression

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Living with your subtype

Here's what current management options look like for PH.