![]() Excess oxalate is excreted by the kidneys where it can form insoluble calcium oxalate crystals, resulting in nephrocalcinosis, recurrent kidney stones, and, ultimately, kidney failure ( 2, 8). In primary hyperoxaluria type 1, deficiency of AGT, which converts glyoxylate to glycine, results in glyoxylate oxidation to oxalate ( Figure 1). Most patients present in early childhood, and severe cases present with kidney failure in early infancy ( 7, 10). Moreover, consanguineous unions further increase the prevalence of the disease ( 8, 9). However, a recent analysis suggests that the genetic prevalence could be two to six times greater ( 7). The diagnosed prevalence of primary hyperoxaluria type 1 ranges from one to three cases per 1,000,000 ( 5, 6). Primary hyperoxaluria type 1 is the most severe form of primary hyperoxaluria and accounts for approximately 80% of diagnosed cases of primary hyperoxaluria ( 2 ⇓– 4). Primary hyperoxaluria type 1 is a rare autosomal recessive disorder characterized by overproduction of oxalate due to a deficiency of the hepatocyte peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT) ( 1). ![]()
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