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
- frequent kidney stones,
- blood in the urine,
- urinary tract infections, or
- failure to thrive in infants.
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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