Differential diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. First clinical description in Russia

• Main Authors: S. A. Kurbatov, V. P. Fedotov, P. G. Tsygankova, E. Y. Zakharova, S. N. Lipovka
• Format: Article
• Language: Russian
• Published: ABV-press 2015-06-01
• Series: Nervno-Myšečnye Bolezni
• Subjects: mitochondrial neurogastrointestinal encephalomyopathy syndrome; gene encoding thymidine phosphorylase mtdna; mitochondrial dna; decrement of the compound muscle action potential; leukoencephalopathy; cachexia; mitochondrial dna depletion syndrome 1; polyn
• Online Access: https://nmb.abvpress.ru/jour/article/view/117
• ISSN: 2222-8721; 2413-0443

Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive progressive multisystem disorder. Most of MNGIE is caused by mutations in the gene encoding thymidine phosphorylase (TYMP), locus 22q13. Mitochondrial dysfunction represents multiple deletions and depletion of mtDNA. We present a case of MNGIE with a novel mutation in the position c.1001T>G of TYMP gene, hypergonadotropic hypogonadism, decrement of compound muscle action potential following repetitive nerve stimulation on EMG which was not previously described in literature and differential diagnoses MNGIE with other conditions.