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 repor...

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