Fast Five Quiz: Primary Hyperoxaluria Type 1 Screening and Diagnosis

Bradley Schwartz, DO


March 04, 2022

Given its wide availability, molecular genetic testing has become increasingly used for the diagnosis of PH1. In certain cases, in which no mutation is found in the AGXT gene, a liver biopsy to measure the activity of alanine-glyoxylate aminotransferase catalytic activity is considered. Additional genetic analysis of the GRHPR and HOGA1 genes can be performed to confirm or rule out PH2 and PH3, which may present similarly.

Learn more details about the diagnosis of PH1.

Editor's Recommendations


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.