RENAL-TRANSPLANTATION IN A PATIENT WITH METHYLMALONIC ACIDEMIA

Renal insufficiency is frequently reported in mutase-deficient methylm alonic acidaemia. We present a case report of a patient with mut(-) me thylmalonic acidaemia who developed chronic tubulointerstitial nephrop athy during adolescence. At 24 years of age, she developed end-stage r enal failure and underwent renal transplantation. Both plasma and urin e methylmalonic acid levels decreased significantly with improved rena l function following transplantation. Complications included cyclospor in toxicity and development of diabetes. Renal, metabolic, and clinica l status remained improved at 3 years after the kidney transplant.