Late Diagnosis of Primary Hyperoxaluria Type 2 in the Adult: Effect of a Novel Mutation in GRHPR Gene on Enzymatic Activity and Molecular Modeling

Abstract

Primary hyperoxaluria type 2 should be considered in patients at adult stone clinics who have had a history of nephrolithiasis since childhood, especially in those with consanguineous parents. Biochemical analysis followed by mutation identification should be the approach for making the definitive diagnosis of primary hyperoxaluria type 2.