MNGIE diagnosis
The diagnosis was based on the patients’ clinical, biochemical and
genetic features (as depicted in Table 1). Serum deoxyuridine and
thymidine were measured using high-performance liquid chromatography.
Thymidine phosphorylase activity in buffy coat leukocytes was performed
as previously reported in patients 1 and 2.
The mutation causing MNGIE in each family was determined by sequencing
the TYMP gene as previously reported.
All studied patients underwent thorough gastrointestinal and
neurological evaluation including abdominal X-ray and/or computerized
tomography (CT), upper endoscopy, brain magnetic resonance imaging
(MRI), electromyography and nerve conduction studies prior to and
following the HSCT procedure.