title: Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation.
abstract: Nonketotic hyperglycinemia (NKH) is an inborn error of amino acid metabolism caused by a defect in the glycine cleavage multienzyme complex resulting in high concentrations of glycine within the brain and spinal cord. Quantitative magnetic resonance spectroscopy ((1)H-MRS) allows measurement of absolute glycine concentrations within different parts of the brain in vivo. In addition, (1)H-MRS may be useful in monitoring treatment of NKH and to differentiate this disease from other disorders of glycine metabolism.
authors.affiliation: Department of Neuroradiology and Magnetic Resonance, University Children's Hospital Zurich, Switzerland. thierry@nmr.mgh.harvard.edu
authors.forename: T A G M
authors.initials: TA
authors.lastname: Huisman
authors.forename: T
authors.initials: T
authors.lastname: Thiel
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
authors.forename: G
authors.initials: G
authors.lastname: Zeilinger
authors.forename: E
authors.initials: E
authors.lastname: Martin
mesh_terms: D001921:Brain / Q000378:metabolism*; D001923:Brain Chemistry; D005998:Glycine / Q000032:analysis; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis*; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D008297:Male
chemical_list: D005998:Glycine