Inborn errors of metabolism
An inherited liver enzyme disease. The body makes too much oxalate. Frequent kidney stones and, over time, kidney damage can occur.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Inborn errors of metabolism” group.
A change in the AGXT gene disrupts an enzyme in the liver. Because of this, too much oxalate is made in the body. In the urine, oxalate combines with calcium and forms stones. When kidney function declines, oxalate also settles in tissues such as bones and blood vessels.
Kidney stones can begin in childhood or at a young age. The course varies from person to person.
This disease is looked for in children who have stones or calcium deposits in the kidneys. Oxalate is measured in the urine and blood, and the make-up of the stone is examined. The definite diagnosis is made with a genetic test.
There are approved treatments specific to the disease. These treatments reduce the making of oxalate in the liver. Drinking plenty of fluids reduces stone formation. In some patients, vitamin B6 supplements lower oxalate. Stones can be removed with minimally invasive methods. In kidney failure, dialysis or a liver and kidney transplant is considered. The doctor who follows the disease decides which treatment is suitable.
The disease is passed on through recessive inheritance. The mother and father are usually healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Diseases of this kind may be more common in marriages between relatives. Genetic counselling guides the family.
Source: MedlinePlus Genetics: Primary hyperoxaluria · NORD: Primary Hyperoxaluria
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
TürkiyeResearch and clinical trials
In Türkiye, pediatric kidney doctors studied children with primary hyperoxaluria in a national registry.
GlobalResearch and clinical trials
A total of 70 patients from North America, Europe and the Middle East were studied.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
Questions you can ask your doctor
ClinicalTrials.gov lists 8 active interventional studies for this disease. 5 are recruiting now; 1 has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)Active, not recruitingSite in TürkiyeNCT04042402
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)RecruitingNCT07587021
Early stage: safety and dose are being tested · Phase 1 · investigational (experimental)RecruitingNCT07776626
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)RecruitingNCT06839235
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)RecruitingNCT04580420
See all studies on ClinicalTrials.gov · Joining clinical trials
EUNew treatments and approvals
In Europe, leriglitazone, taken by mouth, was authorized for cerebral adrenoleukodystrophy.
USANew treatments and approvals
Through the accelerated pathway, the FDA has approved pariglasgene brecaparvovec for glycogen storage disease type Ia.
EuropeResearch and clinical trials
A total of 58 patients from 34 centers in seven European countries were followed.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:93598 · ICD-11 5C51.20
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.