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Start Over Author "Petmezci MT" Topic mitochondrial encephalomyopathies
2 results on '"Petmezci MT"'

2. A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy.

Author

Altuntaş C, Uzunhan TA, Ertürk B, Petmezci MT, Çakar NE, Noyan B, Dokucu Aİ, and Önal H

Subjects
Humans, Female, Thymidine Phosphorylase genetics, Mutation genetics, Syndrome, Mitochondrial Encephalomyopathies complications, Mitochondrial Encephalomyopathies genetics, Mitochondrial Encephalomyopathies pathology, Leukoencephalopathies genetics, Leukoencephalopathies complications
Abstract

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.)

Published
2023
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