ABSTRACT
Primary hyperoxaluria type 1 (PH1, McKusick 259900) is an inherited disorder of glyoxylate metabolism, characterised biochemically by the overproduction of oxalate and glycolate, and clinically by recurrent calcium oxalate (CaOx) stone formation in the urinary tract (urolithiasis) and/or diffuse deposition of CaOx throughout the renal parenchyma (nephrocalcinosis). In most patients, PH1 follows a progressive course that leads to chronic renal failure in mid-to-late childhood or early adulthood. However, in a minority of patients, disease follows a more rapid aggressive course, presenting in the neonate with metabolic acidosis, nephrocalcinosis and renal failure. “Acute neonatal” PH1 frequently results in death by the age of 1 year. Following the onset of renal failure, the effects of increased oxalate synthesis are compounded by decreased clearance, leading to the deposition of CaOx crystals throughout the body (systemic oxalosis).
