Common mutation underlying primary hyperoxaluria type1 in three Indian children

Abstract excerpt

Primary hyperoxaluria is an autosomal recessive disorder caused by deficiency of alanine-glyoxylate aminotransferase, which is encoded by the AGXT gene. We report three Indian children with primary hyperoxaluria type1 having a common mutation in this gene. All patients had evidence of chronic kidney disease at the time of diagnosis, with subsequent progression to end-stage renal disease. The detection of an...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Biomedical Research and Pathophysiology
• Share to Kidney Stones and Urolithiasis Treatments
• Share to Porphyrin Metabolism and Disorders