Farah Al-Hasani

Normal neuroimaging in an infant with SUCLA2-related mitochondrial DNA depletion syndrome type 5: a case report of likely pathogenic variant

Abstract Mitochondrial DNA depletion syndrome type 5 (MTDPS5), caused by SUCLA2 mutations, is a rare autosomal recessive disorder manifesting as early-onset encephalomyopathy. Clinical diagnosis is challenging due to phenotypic overlap and potentially unremarkable early investigations. We report a male infant of consan...