Primary Hyperoxaluria Type 1 (PH1)

Primary Hyperoxaluria Type 1 (PH1)

Primary Hyperoxaluria Type 1 (PH1) is a rare metabolic disorder caused by mutations in the alanine glyoxylate aminotransferase (AGXT) gene that result in a deficiency of liver-specific peroxisomal alanine glyoxylate aminotransferase (AGT) and consequent overproduction of oxalate by the liver. When the kidneys can no longer clear excess oxalate, calcium oxalate (CaOx) crystals deposit in other tissues, leading to systemic oxalosis.

Resources

Image
handout-1
Image
icon Leaflet

Potential Predictors of PH1 in Paediatric Patients

The leaflet details potential clinical characteristics that paediatric patients may present with which should warrant suspicion for PH1.

Image
handout
Image
icon Leaflet

Diagnosis of PH1 in CKD or Dialysis Patients

The leaflet details potential clinical characteristics that pediatric patients may present with which should warrant suspicion for PH1

Image
Unpredictable-progression-of-PH1
Image
icon Leaflet

The Unpredictable Progression of PH1

This leaflet details the potential progressive decline of kidney function in PH1, which mostly results in end-stage renal disease.

Therapies

OXLUMO® (lumasiran)


Explore clinical and educational resources related to the use of vutrisiran in adult patients with polyneuropathy of ATTRv (also known as hATTR) amyloidosis or with cardiomyopathy of wild-type or ATTRv amyloidosis.

Congresses

International Porphyrias Symposium (IPS) 2025 Congress, USA

Primary Hyperoxaluria Type 1 (PH1)

European Society for Paediatric Nephrology (ESPN) 2025

International Porphyrias Symposium (IPS) 2025 Congress, USA

Primary Hyperoxaluria Type 1 (PH1)

American Society of Nephrology (ASN) 2025

International Paediatric Transplant Association (IPTA) 2025 Congress, Germany

Primary Hyperoxaluria Type 1 (PH1)

International Paediatric Transplant Association (IPTA) 2025

Publications

Primary Hyperoxaluria Type 1 (PH1)

Efficacy and Safety of Lumasiran for Advanced Primary Hyperoxaluria Type 1: 24-Month Follow-Up of the Phase 3 Illuminate-C Trial

American Journal of Kidney Diseases

Author(s)

Anne-Laure Sellier-Leclerc, Daniella Magen, Hadas Shasha-Lavsky, et al

Explore Additional Resources and Support

Image
Alnylam Therapies

Alnylam Therapies

To learn about all our therapies

Image
Medical call icon representing healthcare communication

Didn't Find What You Were Looking For?

Contact our medical team for scientific information, support, and resources