Regarding their clinical presentation, MDS may present as the hepato-cerebral form (variants in the DGUOK, MPV17, POLG, or C10orf2 genes), myopathic form (variants in the TK2 gene), encephalomyopathic form (variants in the SUCLA2, SUCLG1, or RRM2B genes), or neurogastrointestinal form (variants in the TYMP gene) [3]. This evidence concerns the gene DGUOK and myelodysplastic syndrome.