Oxalate is produced mainly endogenously (glycine, hydroxyproline, and glycolate metabolism). Primary hyperoxaluria is an autosomal recessive metabolic disorder characterized by excessive production of oxalate, with
deposition in different kinds of tissues (particularly in the kidney). There are different types of hyperoxaluria: type I, due to peroxisomal alanine-glyoxylate aminotransferase deficiency (encoded by AGXT); type II, due to cytosolic
glyoxylate reductase/hydroxypyruvate reductase deficiency (encoded by GRHPR); and type III, due to 4-hydroxy-2-oxoglutarate aldolase deficiency (encoded by HOGA1).
Through ClientSite you can filter variants and download your reports