Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is a rare autosomal-recessive disorder caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase (AGT). AGT deficiency results in increased synthesis and excretion of the metabolic end-product oxalate and deposition of insoluble calcium oxalate in the kidney and urinary tract. Classic treatments for PH1 have tended to address the more distal aspects...

Topics

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

• Share to AGT gene
• Share to AGXT gene
• Share to Hyperoxaluria, Primary