title: Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant.
abstract: Nonketotic hyperglycinemia (NKH) is a rare metabolic brain disease caused by deficient activity of the glycine cleavage system. Localized proton MR spectroscopy (echo-time 166 msec), performed in an infant with the typical clinical and biochemical features of neonatal NKH, showed a markedly increased peak intensity at 3.55 ppm, which was assigned to glycine. Serial proton MR spectroscopic studies indicated that glycine/choline and glycine/total creatine ratios correlated closely with the patient's clinical course. Proton MR spectroscopy was useful for the non-invasive detection and monitoring of cerebral glycine levels in this infant with NKH.
authors.affiliation: Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. cgchoi@amc.seoul.kr
authors.forename: C G
authors.initials: CG
authors.lastname: Choi
authors.forename: H K
authors.initials: HK
authors.lastname: Lee
authors.forename: J H
authors.initials: JH
authors.lastname: Yoon
mesh_terms: D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis*; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D011522:Protons
chemical_list: D011522:Protons