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