Table 2d.

Mitochondrial DNA Maintenance Defects Presenting with Neurogastrointestinal Encephalopathy

GeneDisorderMOImtDNA Maintenance
Defect		Usual Age of OnsetCommon Manifestations
TYMP MNGIE type 1 ARDepletion & multiple deletionsAdolescence
or early adulthood
  • GI dysmotility
  • Cachexia
  • Peripheral neuropathy
  • Ophthalmoplegia
  • Muscle weakness
  • Leukoencephalopathy 1
POLG MNGIE type 4B ARDepletion & multiple deletionsInfancy or childhood
RRM2B

MNGIE type 8B

ARDepletionEarly adulthood

AR = autosomal recessive ; GI = gastrointestinal; MOI = mode of inheritance; mtDNA = mitochondrial DNA

1.

Note: Leukoencephalopathy is not present in POLG-related neurogastrointestinal encephalopathy.

From: Mitochondrial DNA Maintenance Defects Overview

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