We are working out a diagnosis of MNGIE in two patient, but we seem to be unable to nail down mutation, therefore we need metabolic diagnosis. Preferably in Germany.
I suggest you contact Dr Garone at Coumbia University in New York to discuss and arrange this testing---they also do the gene testing for TYMP mutations which are the cause of MNGIE----reference Garone C et al: Clincal & genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain 2011 134:3326-32