Abstract.
Methylmalonic acidemia unresponsive to cobalamin is often fatal in infancy. Patients have been considered candidates for hepatic transplantation and experience has been that the procedure eliminates the life-threatening episodes of ketoacidosis that characterize this disease. Conclusion: experience with a 24-year-old patient treated with hepatic transplantation indicates that this procedure does not prevent progressive renal failure and neurologic dysfunction.
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Nyhan, W.L., Gargus, J.J., Boyle, K. et al. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr 161, 377–379 (2002). https://doi.org/10.1007/s00431-002-0970-4
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DOI: https://doi.org/10.1007/s00431-002-0970-4