Learn About Primary Hyperoxaluria Type 1

What is the definition of Primary Hyperoxaluria Type 1?
Primary hyperoxaluria type 1 (PH1) is a rare disorder that mainly affects the kidneys. It results from buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. It combines with calcium, forming the main component of kidney and bladder stones (calcium oxalate). Signs and symptoms of PH1 vary in severity and may begin any time from infancy to early adulthood. Symptoms may include recurrent kidney stones; blood in the urine; and urinary tract infections. PH1 is due to genetic changes in a gene called AGXT. Inheritance is autosomal recessive.
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What are the alternative names for Primary Hyperoxaluria Type 1?
  • Primary hyperoxaluria type 1
  • Alanine-glyoxylate aminotransferase deficiency
  • Glycolic aciduria
  • HP1
  • Hepatic AGT deficiency
  • Oxalosis 1
  • Peroxisomal alanine glyoxylate aminotransferase deficiency
  • Serine pyruvate aminotransferase deficiency
Who are the top Primary Hyperoxaluria Type 1 Local Doctors?
Elite
Highly rated in
23
conditions

University Of Bonn

Bonn, NW, DE 

Bernd Hoppe is in Bonn, Germany. Hoppe is rated as an Elite expert by MediFind in the treatment of Primary Hyperoxaluria Type 1. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Primary Hyperoxaluria, Primary Hyperoxaluria Type 1, Nephrocalcinosis, and Kidney Stones.

Elite
Highly rated in
22
conditions
Nephrology

Mayo Clinic

Rochester, Minnesota

200 1st St Sw 
Rochester, MN 55905

John Lieske is a Nephrologist in Rochester, Minnesota. Dr. Lieske has been practicing medicine for over 36 years and is rated as an Elite doctor by MediFind in the treatment of Primary Hyperoxaluria Type 1. He is also highly rated in 22 other conditions, according to our data. His top areas of expertise are Kidney Stones, Primary Hyperoxaluria, Dent Disease, and Nephrocalcinosis. He is licensed to treat patients in Minnesota. Dr. Lieske is currently accepting new patients.

 
 
 
 
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Elite
Highly rated in
27
conditions

Haute Autorité De Santé

Lyon, FR 

Pierre Cochat is in Lyon, France. Cochat is rated as an Elite expert by MediFind in the treatment of Primary Hyperoxaluria Type 1. He is also highly rated in 27 other conditions, according to our data. His top areas of expertise are Primary Hyperoxaluria, Primary Hyperoxaluria Type 1, Nephrocalcinosis, and Kidney Stones.

What are the latest Primary Hyperoxaluria Type 1 Clinical Trials?
A Phase 2, Multicenter, Open-Label, Extension Study to Evaluate the Long-Term Administration of ALN-GO1 in Patients With Primary Hyperoxaluria Type 1
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ILLUMINATE-A: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study With an Extended Dosing Period to Evaluate the Efficacy and Safety of Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1
Who are the sources who wrote this article ?

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

What are the Latest Advances for Primary Hyperoxaluria Type 1?
The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants.
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.
Tired of the same old research?
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Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones.