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 Wortmann

Published 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.

Keyphrases

intellectual disability
coronary artery disease
autism spectrum disorder
genome wide
clinical trial
copy number
replacement therapy
chronic kidney disease
study protocol
phase iii
randomized controlled trial
phase ii
gene expression
temporal lobe epilepsy
iron deficiency
smoking cessation