Phosphoserine Aminotransferase Deficiency (PSATD)

Phosphoserine Aminotransferase Deficiency, also known as psat deficiency, is related to neu-laxova syndrome 2 and serine deficiency, and has symptoms including seizures and posturing. An important gene associated with Phosphoserine Aminotransferase Deficiency is PSAT1 (Phosphoserine Aminotransferase 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain and prostate, and related phenotypes are global developmental delay and cerebellar vermis hypoplasia