ENOSF1

This gene encodes a mitochondrial enzyme that catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate as part of L-fucose catabolism, a pathway involved in breaking down sugars attached to cellular glycoproteins. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. The gene shows very low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected patients.