Improving Treatment Options for Primary Hyperoxaluria.

ABSTRACT: The primary hyperoxalurias are three rare inborn errors of the glyoxylate metabolism in the liver, which lead to massively increased endogenous oxalate production, thus elevating urinary oxalate excretion and, based on that, recurrent urolithiasis and/or progressive nephrocalcinosis. Frequently, especially in type 1 primary hyperoxaluria, early end-stage renal failure occurs. Treatment possibilities are scare, namely, hyperhydration and alkaline citrate medication. In type 1 primary hyperoxaluria, vitamin B₆, though, is helpful in patients with specific missense or mistargeting mutations. In those vitamin B₆ responsive, urinary oxalate excretion and concomitantly urinary glycolate is significantly decreased, or even normalized. In patients non-responsive to vitamin B<

SUBMITTER: Hoppe B 

PROVIDER: S-EPMC9329168 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature