Thelansis

 Primary hyperoxalurias are inborn errors in glyoxylate and oxalate metabolism. They are characterized by excessive oxalate production, a metabolic emend product. The most common type of PH, PH1, is caused by a deficiency of the liver-specific peroxisomal, pyridoxal phosphate-dependent enzyme alanine: glyoxylate aminotransferase. The second type, PH2 is caused by a deficiency in glyoxylate reductase/ hydroxypyruvate reductase, a cytosolic enzyme. The recently identified PH type 3 is linked to the gene DHDPSL, encoding a mitochondrial enzyme, although the metabolic reactions involved remain to be confirmed. Including AGXT, over twenty-five different mutations have been identified so far, and around 30% of patients have the G630A mutations leading to Gly170A amino-acid substitutions. Primary hyperoxaluria types 1, 2, and 3 are caused by mutations in the AGXT, GRHPR, and HOGA1 genes. These genes provide instructions for making enzymes that help with the breakdown and processing of pro...