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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE)
POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
603041
OMIM = Online Medalian Inheritance of Men
298
22q13.33
rare
autosomal recessive
mutation of the TYMP gene
symptoms
cachexia
diarrhea
gastrointestinal dysmotility
hearing defect, deafness
lactic acidosis
leukoencephalopathy
malabsorption
muscle weakness
onset, adulthood
ophthalmoplegia
peripheral neuropathy
ptosis (drooping eyelid)
vomiting
weight loss
laboratory finding
2-Deoxyuridine increasedurine
Thymidine0.000.00 increasedplasma
L-Lactic acid0.000.00 increasedblood
2-Deoxyuridine increasedplasma
Literature
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