PDSS1 and hyperinsulinemic hypoglycemia, familial, 4: It should be also emphasised that rare autosomal recessive disorder, CoQ10 deficiency (mutation in CABC1; COQ2; COQ9; PDSS1; PDSS2 genes), is frequently associated with seizures, cognitive decline, pyramidal track signs, myopathy, and prominent cerebellar ataxia [28, 29].