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. 2022 Apr;37(2):361-365.
doi: 10.1002/ncp.10726. Epub 2021 Jun 25.

Intensive nutrition support may benefit patients with a rare mitochondrial disorder

Arezina Kasti  1 , Maroulla Nikolaki  1 , Ioannis Pyrousis  1   2 , Kalliopi Synodinou  1 , Nikolaos Oikonomopoulos  3 , Konstantinos Triantafyllou  4
Affiliations

Intensive nutrition support may benefit patients with a rare mitochondrial disorder

Arezina Kasti et al. Nutr Clin Pract. 2022 Apr.

Abstract

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare, inherited, multisystemic autosomal recessive disorder caused by mutations in the nuclear TYMP gene. This syndrome is characterized by ptosis, external ophthalmoplegia, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. Our case illustrates a patient diagnosed with MNGIE and cachexia who has benefited from the initiation and maintenance of parenteral nutrition. We highlight the benefits of receiving long-term supplementary home parenteral nutrition under close monitoring for patients with this neurogastrointestinal disease in order to gain weight and maintain good health.

Keywords: cachexia; encephalopathy; gastrointestinal disease; mitochondrial encephalomyopathies; parenteral nutrition.

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References

REFERENCES

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