Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

Mitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure homeostasis and proper bioenergetics. The frequent mitochondrial disease manifestation children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, molecular features. It typically affects infants but occurs anytime life. Considering recent updates, LS clinical presentation has been stretched, now named spectrum (LSS), including classical Leigh-like presentations. Apart from diagnosis challenges, characterization also progressed Sanger techniques NGS (next-generation sequencing), analysis nuclear (nDNA) DNA (mtDNA). This upgrade resumed steps favored diagnosis. Hereby, our paper presents data on a Portuguese cohort 40 positive cases LSS. A total 28 patients presented mutation mtDNA 12 nDNA, with novel mutations identified heterogeneous group genes. present results contribute better knowledge basis expand associated this syndrome.