Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Daisy RymenMartijn LindhoutMaria SpanouFarah AshrafzadehIra BenkelCornelia BetzlerChristine CoubesHans HartmannJulie D KaplanDiana BallhausenJohannes KochJan LotteMohammad Hasan MohammadiMarianne RohrbachArgirios DinopoulosMarieke WermuthDaniel WillisKarin BruggerRon A WeversEugen BoltshauserJörgen BierauJohannes A MayrSaskia B WortmannPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
We advise a trial with uridine (monophosphate) in all patients with developmental delay/intellectual disability, epilepsy, and anemia; all patients with status epilepticus; and all patients with neonatal seizures until (genetically) proven otherwise or proven unsuccessful after 6 months. CAD deficiency might represent a condition for genetic newborn screening.