Biochemical and molecular investigations of patients with nonketotic hyperglycinemia

The investigation of 14 unrelated patients with nonketotic hyperglycinemia led to the identification of mutations in 4 cases. Patients were initially categorized into probable P- or T-protein defects of the glycine cleavage e nzyme complex, by the use of the glycine exchange assay without supplementa l H-protein, then screened for mutations in the P-protein and T-protein gen es, respectively, (C) 2000 Academic Press.