Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Objective Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inherited neurometabolic disorder with variable clinical course and severity, ranging from infantile epileptic encephalopathy to psychiatric disorders. A precise phenotypic characterization and an evaluation of predictive approaches are needed. Methods Longitudinal clinical and biochemical data of 25 individuals with NKH from the patient registry [...]