The Genotypic and Phenotypic Spectrum of Mto1 Deficiency
Date
2018Author
O'Byrne, James J.
Tarailo-Graovac, Maja
Ghani, Aisha
Champion, Michael
Deshpande, Charu
Dursun, Ali
Ozgul, Riza K.
Freisinger, Peter
Garber, Ian
Haack, Tobias B.
Horvath, Rita
Barić, Ivo
Husain, Ralf A.
Kluijtmans, Leo A.J.
Kotzaeridou, Urania
Morris, Andrew A.
Ross, Colin J.
Santra, Saikat
Smeitink, Jan
Tarnopolsky, Mark
Wortmann, Saskia B.
Mayr, Johannes A.
Brunner-Krainz, Michaela
Prokisch, Holger
Wasserman, Wyeth W.
Wevers, Ron A.
Engelke, Udo F.
Rodenburg, Richard J.
Ting, Teck Wah
McFarland, Robert
Taylor, Robert W.
Salvarinova, Ramona
van Karnebeek, Clara D.M.
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Show full item recordAbstract
• The phenotypic and genotypic spectrum of MTO1 deficiency is more variable than previously reported • Hallmark features: cardiomyopathy, lactic acidosis, developmental delay, failure to thrive, seizures, optic atrophy, ataxia • 19 pathogenic MTO1 mutations (splice-site, frameshift, missense) were identified with a geno-phenotype relation • Suspect MTO1 deficiency based on clinical features, mitochondrial markers in body fluids, low complex I III IV activity • Although ketogenic diet exerted subjective improvement in some cases, there is exists no evidence-based effective therapy
URI
https://doi.org/10.1016/j.ymgme.2017.11.003https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301/
http://hdl.handle.net/11655/14454