Pyridoxine‐responsive nephrocalcinosis and glycolic aciduria in two siblings without hyperoxaluria and with normal alanine:glyoxalate aminotransferase activity

Primary hyperoxaluria type I (PH I) is an autosomal recessive disorder characterized by excessive oxalate excretion leading to nephrocalcinosis and progressive renal failure. PH I is caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxalate aminotransferase (AGT). This report concerns two siblings with nephrocalcinosis and hyperglycoluria but without hyperoxaluria, with a normal AGT and improvement with pyridoxine treatment.