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.