Ontology highlight
ABSTRACT:
SUBMITTER: Filosto M
PROVIDER: S-EPMC6262582 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Filosto Massimiliano M Cotti Piccinelli Stefano S Caria Filomena F Gallo Cassarino Serena S Baldelli Enrico E Galvagni Anna A Volonghi Irene I Scarpelli Mauro M Padovani Alessandro A
Journal of clinical medicine 20181026 11
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in <i>TYMP</i>, which cause a loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues, and mitochondrial dysfunction. The clinical picture includes progressive gastrointestinal dysmotility, cachexia, ptosis and ophthalmoparesis, peripheral neuropathy, and diffuse leukoencephalopathy, which usually lead to death in early adulth ...[more]