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Learn About Primary Hyperoxaluria Type 2

What is the definition of Primary Hyperoxaluria Type 2?
Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by genetic changes in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.
What are the alternative names for Primary Hyperoxaluria Type 2?
  • Primary hyperoxaluria type 2
  • D-glycerate dehydrogenase deficiency
  • Glyceric aciduria
  • Glyoxylate reductase/hydroxypyruvate reductase deficiency
  • HP2
  • Oxalosis 2
Who are the top Primary Hyperoxaluria Type 2 Local Doctors?
Elite in Primary Hyperoxaluria Type 2
Elite in Primary Hyperoxaluria Type 2
200 1st St Sw, 
Rochester, MN 
Languages Spoken:
English

Dawn Milliner is a Nephrologist in Rochester, Minnesota. Dr. Milliner is rated as an Elite provider by MediFind in the treatment of Primary Hyperoxaluria Type 2. Her top areas of expertise are Primary Hyperoxaluria, Nephrocalcinosis, Primary Hyperoxaluria Type 2, Kidney Transplant, and Endoscopy.

Elite in Primary Hyperoxaluria Type 2
Elite in Primary Hyperoxaluria Type 2

Mayo Clinic

200 1st St Sw, 
Rochester, MN 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

John Lieske is a Nephrologist in Rochester, Minnesota. Dr. Lieske is rated as an Elite provider by MediFind in the treatment of Primary Hyperoxaluria Type 2. His top areas of expertise are Kidney Stones, Nephrocalcinosis, Primary Hyperoxaluria, Kidney Transplant, and Lithotripsy. Dr. Lieske is currently accepting new patients.

 
 
 
 
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Nassim Kamar
Distinguished in Primary Hyperoxaluria Type 2
Distinguished in Primary Hyperoxaluria Type 2

CHU Toulouse Rangueil

Toulouse, FR 

Nassim Kamar practices in Toulouse, France. Mr. Kamar is rated as a Distinguished expert by MediFind in the treatment of Primary Hyperoxaluria Type 2. His top areas of expertise are Hepatitis E, Hepatitis, Cytomegalovirus Infection, Kidney Transplant, and Liver Transplant.

What are the latest Primary Hyperoxaluria Type 2 Clinical Trials?
Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network

Summary: This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center