Primary Hyperoxaluria Type 1: Symptoms & Signs

Medically Reviewed on 11/23/2021

Primary hyperoxaluria type 1 is a rare disorder that is characterized by the accumulation of a substance known as oxalate.

Signs and symptoms of primary hyperoxaluria type 1 vary in severity among affected people. Symptoms and signs can begin any time from infancy to early adulthood and include

If untreated, the condition can progress to end-stage renal disease (kidney failure).

Causes of Primary Hyperoxaluria Type 1

The condition is caused by a genetic mutation in the gene AGXT and is inherited in an autosomal recessive manner, meaning an affected person must receive a copy of the defective gene from both parents. The mutation prevents the normal breakdown of glyoxylate, leading to an abundance of oxalate, which is deposited in the kidneys and urinary tract and combines with calcium to form kidney stones.

Other primary hyperoxaluria type 1 symptoms and signs

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References
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.