"orthotopic liver transplant: ensuring the donor has a normal TYMP genotype"
"MNGIE-like disorders: e.g. due to mutations of RRM2B, POLG, etc. 7,9"
Expected headings
"Gastrointestinal system"
"Central nervous system"
"gastrointestinal: altered bowel habit due to gastrointestinal dysmotility, abdominal cramps/pain, abdominal distension, nausea and vomiting, gastro-oesophageal reflux disease, malabsorption, borborygmi, dysphagia"
"MRI brain is nearly always abnormal 2,9. There is evidence of a leukoencephalopathy, including T2 and FLAIR white matter hyperintensities in the centrum semiovale which are bilateral, either diffuse or patchy, and spare subcortical U-fibres 2,6,7,9. In longstanding disease, there may be more extensive involvement of structures such as the corpus callosum, basal ganglia, thalamus, and those in the posterior fossa 2. There is typically no enhancement with administration of gadolinium 2,6,7."
"gastrointestinal: altered bowel habit due to gastrointestinal dysmotility, abdominal cramps/pain, abdominal distension, nausea and vomiting, gastro-oesophageal reflux disease, malabsorption, borborygmi, dysphagia"
"complications: weight loss and cachexia, colonic pseudo-obstruction and megacolon, diverticulosis and diverticulitis, intestinal perforation causing peritonitis, small intestinal bacterial overgrowth"
"hepatic steatosis, which can lead to cirrhosis and complications thereof (e.g. oesophageal varices)"
"MRI brain is nearly always abnormal 2,9. There is evidence of a leukoencephalopathy, including T2 and FLAIR white matter hyperintensities in the centrum semiovale which are bilateral, either diffuse or patchy, and spare subcortical U-fibres 2,6,7,9. In longstanding disease, there may be more extensive involvement of structures such as the corpus callosum, basal ganglia, thalamus, and those in the posterior fossa 2. There is typically no enhancement with administration of gadolinium 2,6,7."
"MRI brain is nearly always abnormal 2,9. There is evidence of a leukoencephalopathy, including T2 and FLAIR white matter hyperintensities in the centrum semiovale which are bilateral, either diffuse or patchy, and spare subcortical U-fibres 2,6,7,9. In longstanding disease, there may be more extensive involvement of structures such as the corpus callosum, basal ganglia, thalamus, and those in the posterior fossa 2. There is typically no enhancement with administration of gadolinium 2,6,7."