title: Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts.
abstract: We developed a new enzymatic assay for the glycine cleavage system that used Epstein-Barr virus-transformed lymphoblasts instead of liver biopsy specimens. Patients with nonketotic hyperglycinemia from a deficiency of P-protein could be clearly distinguished from control subjects by activities in their lymphoblasts, suggesting the clinical usefulness of this method.
authors.affiliation: Department of Biochemical Genetics, Tohoku University School of Medicine, Sendal, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kure
authors.forename: K
authors.initials: K
authors.lastname: Narisawa
authors.forename: K
authors.initials: K
authors.lastname: Tada
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D001402:B-Lymphocytes / Q000201:enzymology / Q000378:metabolism*; D002250:Carbon Radioisotopes; D002352:Carrier Proteins / Q000378:metabolism; D002472:Cell Transformation, Viral; D002648:Child; D002675:Child, Preschool; D005998:Glycine / Q000097:blood* / Q000378:metabolism; D004854:Herpesvirus 4, Human / Q000502:physiology; D006801:Humans; D007223:Infant; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008213:Lymphocyte Activation; D015203:Reproducibility of Results
chemical_list: D002250:Carbon Radioisotopes; D002352:Carrier Proteins; D005998:Glycine