RT Journal Article
SR Electronic
T1 Rare pathogenic mutation in the thymidine phosphorylase gene (TYMP) causing mitochondrial neurogastrointestinal encephalomyelopathy
JF BMJ Neurology Open
JO BMJ Neurol Open
FD BMJ Publishing Group Ltd
SP e000287
DO 10.1136/bmjno-2022-000287
VO 4
IS 2
A1 Syed Asfand Yar Shah
A1 Hassan Abdullah Shakeel
A1 Wajih Ul Hassan
YR 2022
UL http://neurologyopen.bmj.com/content/4/2/e000287.abstract
AB Background Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a rare multisystem disorder that mainly affects the digestive and nervous systems. Key features of the disease include cachexia, ptosis, external ophthalmoplegia, peripheral neuropathy and leucoencephalopathy. Symptoms most often begin by age 20 and overlap several other Metabolic and endocrine disorders making the diagnosis challenging. It has been determined that MNGIE is caused by mutations in the gene-encoding thymidine phosphorylase (TP; previously known as endothelial cell growth factor 1).Case We herein present the clinical, neuroimaging and molecular findings in a patient with MNGIE caused by a novel homozygous variant of TYMP gene c.1048C>T, which is predicted to result in a premature protein termination (p.Gln350*). TYMP is a gene on chromosome 22q13.33 that encodes TP.Conclusion This case highlights the importance of good understanding and early recognition of a rare condition like MNGIE, so that the suffering from unnecessary interventional procedures can be avoided and better multidisciplinary care can be implemented for the symptomatic management of the patient.Data sharing not applicable as no datasets generated and/or analysed for this study. N/A.