Management of methylmalonic acidaemia by combined liver–kidney transplantation

@article{Nagarajan2005ManagementOM,
  title={Management of methylmalonic acidaemia by combined liver–kidney transplantation},
  author={Swarnalatha Nagarajan and Gregory M. Enns and Maria T. Millan and Sven Winter and Minnie M. Sarwal},
  journal={Journal of Inherited Metabolic Disease},
  year={2005},
  volume={28},
  pages={517-524}
}
SummaryMethylmalonic acidaemia (MMA) is a rare autosomal recessive inborn error of metabolism that typically presents in infancy with recurrent episodes of metabolic acidosis, developmental delay and failure to thrive. The disease course is complicated by the development of chronic tubulointerstitial nephritis progressing to end-stage renal disease in adolescence. We describe two adolescents with cobalamin-nonresponsive MMA (mut0) who developed polyuria, chronic tubulointerstitial nephritis… CONTINUE READING

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Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias.

  • Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society
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