Rymen, Daisy; Lindhout, Martijn; Spanou, Maria; Ashrafzadeh, Farah; Benkel, Ira; Betzler, Cornelia; Coubes, Christine; Hartmann, Hans; Kaplan, Julie D.; Ballhausen, Diana; Koch, Johannes; Lotte, Jan; Mohammadi, Mohammad Hasan; Rohrbach, Marianne; Dinopoulos, Argirios; Wermuth, Marieke; Willis, Daniel; Brugger, Karin; Wevers, Ron A.; Boltshauser, Eugen; Bierau, Jorgen; Mayr, Johannes A.; Wortmann, Saskia B. published the artcile< Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation>, Formula: C9H13N2O9P, the main research area is anemia epilepticus dyserythropoietic infantile encephalopathy; EIEE; anemia; developmental delay; early infantile epileptic encephalopathy-50; epilepsy.
Abstract: Purpose: Biallelic CAD variants underlie CAD deficiency (or early infantile epileptic encephalopathy-50, [EIEE-50]), an error of pyrimidine de novo biosynthesis amenable to treatment via the uridine salvage pathway. We further define the genotype and phenotype with a focus on treatment. Methods: Retrospective case series of 20 patients. Results: Our study confirms CAD defici. as a progressive EIEE with recurrent status epilepticus, loss of skills, and dyserythropoietic anemia. We further refine the phenotype by reporting a movement disorder as a frequent feature, and add that milder courses with isolated developn. delay/intellectual disability can occur as well as onset with neonatal seizures. With no biomarker availa., the diagnosis relies on genetic testing and functional validation in patient-derived fibroblasts. Underlying pathogenic variants are often rated as variants of unknown significance, which could lead to underrecognition of this treatable disorder. Supplemen. with uridine, uridine monophosphate, or uridine triacetate in 10 patients was safe and led to significant clin. improvn. in most patients. Conclusion: We advise a trial with uridine 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 mo. CAD defici. might represent a condition for genetic newborn screening.
Genetics in Medicine published new progress about Anemia. 58-97-9 belongs to class tetrahydrofurans, and the molecular formula is C9H13N2O9P, Formula: C9H13N2O9P.
Referemce:
Tetrahydrofuran – Wikipedia,
Tetrahydrofuran | (CH2)3CH2O – PubChem