Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report

CAD (MIM*114010) encodes a large multifunctional protein with the enzymatic activity of the first three enzymes initiating and controlling the de novo pyrimidine biosynthesis pathway. Biallelic pathogenic variants in CAD cause the autosomal recessive developmental and epileptic encephalopathy 50 (MIM #616457) or CAD deficiency presenting with epilepsy, status epilepticus (SE), neurological deterioration and anemia with anisopoikilocytosis. Mortality is around 9% of patients, mainly related to the no use of its specific treatment with uridine.

Source: Brain and Development - April 18, 2024 Category: Neurology Authors: Sebasti án Silva, Mónica Rosas, Benjamín Guerra, Marión Muñoz, Atsushi Fujita, Masamune Sakamoto, Naomichi Matsumoto Source Type: research