作者: S. C. Van Calcar , C. O. Harding , P. Lyne , K. Hogan , R. Banerjee
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摘要: Renal insufficiency is frequently reported in mutase-deficient methylmalonic acidaemia. We present a case report of patient with mut– acidaemia who developed chronic tubulointerstitial nephropathy during adolescence. At 24 years age, she end-stage renal failure and underwent transplantation. Both plasma urine acid levels decreased significantly improved function following Complications included cyclosporin toxicity development diabetes. Renal, metabolic, clinical status remained at 3 after the kidney transplant.