Some individuals may have mild cases that go undiagnosed well into adulthood; others may develop severe complications during infancy, which may result in early death.

Stones cause urinary obstruction (often with severe and acute pain), secondary infection of urine and eventually kidney damage.

[5][6] The three main types of primary hyperoxaluria (PH1, PH2, and PH3) are each associated with mutations in specific genes involved in the metabolism of glyoxylate, the precursor of oxalate.

[7] Mutations in the genes AGXT and GRHPR cause PH1 and PH2, respectively, through decreased production or activity of the proteins they make, which stops the normal breakdown of glyoxylate.

[10] Increased water intake and alkalinization of urine is advised to prevent oxalate precipitation in urinary tract.

[12] Lumasiran, an RNA interference therapeutic drug,[13] is indicated for the treatment of primary hyperoxaluria type 1 (PH1) in adults and children of all ages and is available under the UK Early Access to Medicines Scheme (EAMS).

[15][16] In addition, there are a few agents under investigation in clinical trials for PH: Nedosiran (RNA interference therapeutic) for PH1, PH2, and PH3; Stiripentol (antiepileptic drug); Oxabact (lyophilized Oxalobacter formigenes; and Reloxaliase (oxalate-digesting enzyme) for PH [17][18] Nedosiran (RIVFLOZA) was approved for medical use in the United States in September 2023.

RIVFLOZA is an LDHA-directed small interfering RNA indicated to lower urinary oxalate levels in children 9 years of age and older and adults with primary hyperoxaluria type 1 (PH1) and relatively preserved kidney function.