title: Diagnostic tools of metabolic and structural brain disturbances in neonatal non-ketotic hyperglycinemia.
abstract: Non-ketotic hyperglycinemia (NKH) is a rare autosomal recessive disorder of glycine metabolism. We report a newborn case of NKH and discuss the effects of this rare disease on brain metabolism and structure together with amplitude-integrated electroencephalography, cranial magnetic resonance and magnetic resonance spectroscopy findings which are very rarely reported together so far.
authors.affiliation: Division of Neonatology, Department of Pediatrics, Ege University Faculty of Medicine, Bornova, Izmir, Turkey. demet.terek@yahoo.com
authors.forename: Demet
authors.initials: D
authors.lastname: Terek
authors.forename: Ozge Altun
authors.initials: OA
authors.lastname: Koroglu
authors.forename: Sezgin
authors.initials: S
authors.lastname: Gunes
authors.forename: Mehmet
authors.initials: M
authors.lastname: Yalaz
authors.forename: Mete
authors.initials: M
authors.lastname: Akisu
authors.forename: Sema Kalkan
authors.initials: SK
authors.lastname: Uçar
authors.forename: Sarenur
authors.initials: S
authors.lastname: Gokben
authors.forename: Mahmut
authors.initials: M
authors.lastname: Coker
authors.forename: Nilgün
authors.initials: N
authors.lastname: Kultursay
mesh_terms: D001921:Brain / Q000378:metabolism* / Q000473:pathology; D004569:Electroencephalography; D005260:Female; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis* / Q000473:pathology; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy