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Article

Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa.

The Journal of adolescent health : official publication of the Society for Adolescent Medicine - 1 Dec 2016

Demaria Francesco, De Crescenzo Franco, Caramadre Anna Maria, D'Amico Adele, Diamanti Antonella, Fattori Fabiana, Casini Maria Pia, Vicari Stefano

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder mainly caused by mutations in the nuclear gene TYMP, encoding thymidine phosphorylase. It generally appears in childhood and is clinically characterized by severe gastrointestinal dysmotility, cachexia, ptosis, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse...

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Source

Identifiers

PMID: 27743770
DOI: 10.1016/j.jadohealth.2016.08.012

Genes

TYMP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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