Primary hyperoxaluria type 3 is a genetic disorder that causes the body to produce too much oxalate, which combines with calcium to form kidney stones.
Symptoms include onset of kidney stone disease in childhood, recurrent calcium stones, and reduced kidney function. More than 50% of individuals develop a stone by the time they are five years old. However, as the individual ages, they may experience less frequent and less severe stones.
Primary hyperoxaluria type 3 is caused by pathogenic (disease-causing) variants in the HOGA1 gene. This disorder exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Carriers typically do not experience any symptoms.
Other names for this condition include congenital oxaluria, D-glycerate dehydrogenase deficiency, glycolic aciduria, hepatic AGT deficiency, primary peroxisomal alanine: glyoxylate aminotransferase deficiency, primary oxalosis, and primary oxaluria.