A case of failure to thrive secondary to primary hyperoxaluria type 1

Abstract

Primary hyperoxaluria type 1 is a rare genetic condition characterized by oxalate deposition in the kidneys. We report findings of an 8-month old female presenting with failure to thrive, poor oral intake, and kidney stones resulting in the diagnosis of primary hyperoxaluria type 1. The patient exhibits a unique presentation without renal failure at the time of diagnosis suggesting a previously unreported comorbidity in early stages of disease.

Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1

“…This sequence change replaces methionine with arginine at codon 195 of the AGXT protein (p.Met195Arg). Some individuals affected with primary hyperoxaluria, type 1 had this variant [17][18][19]. This variant has been described to affect AGXT protein function [20].…”