Primary hyperoxaluria
A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH types 1-3 all caused by liver-specific enzyme defects.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Primary hyperoxaluria?
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Advocacy Organizations
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Oxalosis & Hyperoxaluria Foundation
Dedicated to improving the daily lives of people with hyperoxaluria. We have a single, urgent goal: eradicating all forms of hyperoxaluria disease forever.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.