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Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a well-known mitochondrial depletion syndrome. Since Van Goethem et al. described MNGIE syndrome with pathogenic POLG1 mutations in 2003, POLG1 gene became a target for MNGIE patients. Cases with POLG1 mutations strikingly differ from classic MNGIE patients due to a lack of leukoencephalopathy. Here we present a female patient with very early onset disease and leukoencephalopathy compatible with classic MNGIE disease who turned out to have homozygous POLG1 mutation compatible with MNGIE-like syndrome, mitochondrial depletion syndrome type 4b. Copyright © 2023 Elsevier B.V. All rights reserved.


Cansu Altuntaş, Tugce Aksu Uzunhan, Biray Ertürk, Mey Talip Petmezci, Nafiye Emel Çakar, Bilge Noyan, Ali İhsan Dokucu, Hasan Önal. A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy. Clinical neurology and neurosurgery. 2023 Jun;229:107712

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PMID: 37084649

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