Renal transplantation in a patient with methylmalonic acidaemia

S. C. Van Calcar; C. O. Harding; P. Lyne; K. Hogan; R. Banerjee; H. Sollinger; R. E. Rieselbach; J. A. Wolff

doi:10.1023/A:1005493015489

Renal transplantation in a patient with methylmalonic acidaemia

S. C. Van Calcar, C. O. Harding, P. Lyne, K. Hogan, R. Banerjee, H. Sollinger, R. E. Rieselbach, J. A. Wolff

Research output: Contribution to journal › Article › peer-review

37 Scopus citations

Abstract

Renal insufficiency is frequently reported in mutase-deficient methylmalonic acidaemia. We present a case report of a patient with mut^- methylmalonic acidaemia who developed chronic tubulointerstitial nephropathy during adolescence. At 24 years of age, she developed end-stage renal failure and underwent renal transplantation. Both plasma and urine methylmalonic acid levels decreased significantly with improved renal function following transplantation. Complications included cyclosporin toxicity and development of diabetes. Renal, metabolic, and clinical status remained improved at 3 years after the kidney transplant.

Original language	English (US)
Pages (from-to)	729-737
Number of pages	9
Journal	Journal of inherited metabolic disease
Volume	21
Issue number	7
DOIs	https://doi.org/10.1023/A:1005493015489
State	Published - 1998
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Renal transplantation in a patient with methylmalonic acidaemia",

abstract = "Renal insufficiency is frequently reported in mutase-deficient methylmalonic acidaemia. We present a case report of a patient with mut- methylmalonic acidaemia who developed chronic tubulointerstitial nephropathy during adolescence. At 24 years of age, she developed end-stage renal failure and underwent renal transplantation. Both plasma and urine methylmalonic acid levels decreased significantly with improved renal function following transplantation. Complications included cyclosporin toxicity and development of diabetes. Renal, metabolic, and clinical status remained improved at 3 years after the kidney transplant.",

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AU - Van Calcar, S. C.

AU - Harding, C. O.

AU - Lyne, P.

AU - Hogan, K.

AU - Banerjee, R.

AU - Sollinger, H.

AU - Rieselbach, R. E.

AU - Wolff, J. A.

PY - 1998

Y1 - 1998

N2 - Renal insufficiency is frequently reported in mutase-deficient methylmalonic acidaemia. We present a case report of a patient with mut- methylmalonic acidaemia who developed chronic tubulointerstitial nephropathy during adolescence. At 24 years of age, she developed end-stage renal failure and underwent renal transplantation. Both plasma and urine methylmalonic acid levels decreased significantly with improved renal function following transplantation. Complications included cyclosporin toxicity and development of diabetes. Renal, metabolic, and clinical status remained improved at 3 years after the kidney transplant.

AB - Renal insufficiency is frequently reported in mutase-deficient methylmalonic acidaemia. We present a case report of a patient with mut- methylmalonic acidaemia who developed chronic tubulointerstitial nephropathy during adolescence. At 24 years of age, she developed end-stage renal failure and underwent renal transplantation. Both plasma and urine methylmalonic acid levels decreased significantly with improved renal function following transplantation. Complications included cyclosporin toxicity and development of diabetes. Renal, metabolic, and clinical status remained improved at 3 years after the kidney transplant.

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JO - Journal of inherited metabolic disease

JF - Journal of inherited metabolic disease

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Renal transplantation in a patient with methylmalonic acidaemia

Abstract

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