Mitochondrial neurogastrointestinal encephalomyopathy is a rare autosomal recessive disorder characterized by severe muscle wasting, gastrointestinal dysmotility, leukoencephalopathy, peripheral neuropathy, and ophthalmoplegia. The pathogenesis involves the accumulation of very high concentrations of nucleosides dThd and dUrd along with depletion of nucleotide dCTP. One of the treatment measures is the removal of nucleosides dThd and dUrd by hemodialysis and peritoneal dialysis. Only a few patient reports of dialysis as a measure to remove nucleosides had been reported.
Keywords: dCTP; dThd; dUrd; hemodialysis; mitochondrial neurogastrointestinal encephalomyopathy; peritoneal dialysis; thymidine phosphorylase deficiency.