CAD Deficiency—Another Treatable Early Infantile Epileptic Encephalopathy

Abstract

Early infantile epileptic encephalopathies (EIEEs) are caused by a variety of structural brain abnormalities, genetic defects and inborn errors of metabolism. Although most conditions do not have definitive treatment, a very few of these are treatable like pyridoxine dependency, pyridoxal phosphate–responsive seizures, folinic acid–responsive seizures, biotinidase deficiency, glucose transporter type 1 deficiency syndrome, creatine deficiency, and KCNQ2 and SCN2A encephalopathies.1 We now have another condition in EIEE that is easily treatable, i.e., EIEE-50 caused because of mutations in CAD gene that can be treated with uridine supplementation.