Primary hyperoxaluria type 1 (Q40060)

Primary hyperoxaluria type 1 is a rare metabolic disorder due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). The infantile form is characterised by chronic renal failure due to massive oxalate deposition. In other patients, urolithiasis develops with infections, haematuria, renal colic or acute renal failure due to complete obstruction. End-stage renal failure occurs before 15 years of age in half the cases and the resulting increase of circulating oxalate leads to its deposition in tissues causing cardiac conduction defects, hypertension, distal gangrene, and reduced joint mobility and pain.