IllnessMNGIE - Mitochondrial neurogastrointestinal encephalomyopathy, DD

NGS +

[Sanger]

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) particularly affects the digestive and nervous systems. The main features can occur from infancy to adulthood, most commonly by age 20, and worsen over time. Almost all patients have gastrointestinal dysmotility leading to extreme weight loss and cachexia. Nervous system abnormalities are usually milder, with peripheral neuropathy, especially in the hands and feet. Other neurologic signs and symptoms may include ptosis, ophthalmoplegia and hearing loss. Leukoencephalopathy is a characteristic feature on magnetic resonance imaging. Mutations in the TYMP gene cause MNGIE disease by damaging the mtDNA. MNGIE is inherited in an autosomal recessive manner. The German guidelines recommend including 3 other genes in the differential diagnosis (some with autosomal dominant inheritance). The molecular genetic diagnostic yield is not known. Negative DNA test results cannot exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1179/

• Alias: Mitochondrial neurogastrointestinal encephalopathy syndrome (TYMP)
• Alias: Myoneurogastrointestinal encephalopathy (TYMP)
• Alias: POLIP syndrome (TYMP)
• Alias: Polyneuropathy, ophthalmoplegia, leuhencephalopathy + intestinal pseudoobstruction (TYMP)
• Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
• Mitochondrial DNA depletion syndrome 11 (MGME1)
• Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
• Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
• Mitochondrial DNA depletion syndrome 8A [encephalomyopathic type with renal tubulopathy] (RRM2B)
• Mitochondrial DNA depletion syndrome 8B [MNGIE type] (RRM2B)
• Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 5 (RRM2B)
• Progressive external ophthalmoplegia, AD 1 (POLG)
• Progressive external ophthalmoplegia, AR 1 (POLG)