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KEYWORDS: Leigh syndrome Leigh syndrome spectrum mitochondrial disease mitochondrial DNA neurodegeneration 1. Introduction Leigh syndrome (LS) is the most common early onset clinical presentation of mitochondrial disease, with a high clinical and genetic heterogeneity, accounting for ∼1 in 40,000 live births [Citation1].
Authors Authors and affiliations Patrícia Janeiro Rita Jotta Ruben Ramos Cristina Florindo Fátima V. Ventura Laura Vilarinho Isabel Tavares de Almeida Ana Gaspar Original Article First Online: 07 January 2019 Abstract Fatty acid β-oxidation (FAO) disorders have a wide variety of symptoms, not usually evident between episodes of acute decompensations. Cardiac involvement is frequent, and severe ventricular arrhythmias are suspected of causing sudden death.
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