mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)

Pathology

• multisystem disorder
• diffuse leukoencephalopathy

Genetics

• autosomal recessive
• associated with defects in POLG, TYMP
• multiple deletions of mitochondrial DNA in skeletal muscle

Clinical manifestations

• onset between the 2nd & 5th decades of life
• ptosis
• progressive external ophthalmoplegia
• gastrointestinal dysmotility (often pseudoobstruction)
• thin body habitus
• peripheral neuropathy
• myopathy

More general terms

• mitochondrial disease
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/603041