Endogenous Oxalate Production in Primary Hyperoxaluria Type 1 Patients.

ABSTRACT:

Background

Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism, characterized by increased endogenous oxalate production. The metabolic pathways underlying oxalate synthesis have not been fully elucidated, and upcoming therapies require more reliable outcome parameters than the currently used plasma oxalate levels and urinary oxalate excretion rates. We therefore developed a stable isotope infusion protocol to assess endogenous oxalate synthesis rate and the contribution of glycolate to both oxalate and glycine synthesis in vivo .

Methods

Eight healthy volunteers and eight patients with PH1 (stratified by pyridoxine responsiveness) underwent a combined primed continuous infusion of intravenous [1- 13 C]glycolate, [U- 13 C 2 ]oxalate, and, in a subg

SUBMITTER: Garrelfs SF 

PROVIDER: S-EPMC8638398 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature