Primary Hyperoxalurias (PH) are inborn errors of the metabolism of glyoxylate and oxalate. PH type 1, the most common form, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine, glyoxylate aminotransferase (AGT) resulting in overproduction and excessive urinary excretion of oxalate. As glomerular filtration rate decreases due to progressive renal damage, oxalate accumulates leading to systemic oxalosis. Hyperoxaluria may be either inherited or acquired.
The primary hyperoxalurias (PH) are an inborn error resulting in increased endogenous production of oxalate leading to excessive urinary oxalate excretion. To date, three distinct hereditary enzymatic deficiencies have been linked to PH, namely, PH type 1 (PH1), type 2 (PH2), and type 3 (PH3). As a result of kidney injury, glomerular filtration rate (GFR) declines that leads to chronic kidney…
