Progress in the diagnosis and treatment of mitochondrial neurogastrointestinal encephalopathy / 中华实用儿科临床杂志

ABSTRACT

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disease with a wide age range of onset from neonates to 50 years old, characterized by multisystem involvement.In this article, the research progress of the genetic characteristics, clinical phenotype, diagnosis and treatment of MNGIE was reviewed to further improve its clinical understanding.