MEPAN Syndrome in an Iranian Child: A Novel Mutation

Abstract

Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) syndrome is an ultra-rare autosomal recessive disorder of mitochondrial fatty acid synthesis, characterized by childhood-onset progressive movement disorder, optic atrophy, and basal ganglia abnormalities. It results from a deficiency of mitochondrial trans-2-enoyl-CoA reductase, an enzyme essential for oxidative phosphorylation and for regulating oxidative stress. We report the first Iranian case of MEPAN syndrome in a 2-year-old boy presenting with developmental delay and several atypical features. Whole-exome sequencing (WES) identified a novel likely pathogenic MECR variant. This case underscores the importance of genetic evaluation in children with unexplained developmental delays and expands the clinical spectrum associated with MECR mutations.