title: Transient neonatal nonketotic hyperglycinemia: a 13-year follow-up.
abstract: We report on a patient with transient nonketotic hyperglycinemia (NKH). Onset, clinical features, biochemical and electroencephalographic findings were consistent with neonatal nonketotic hyperglycinemia. The normalization of clinical, biochemical and electroencephalographic features on day 9 without specific therapy suggested a transient form. At the last follow-up the girl was 13 years old, had a normal mental development, no EEG abnormalities or neurological deficits.
authors.affiliation: Department of Pediatrics, University of Florence, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: F
authors.initials: F
authors.lastname: Ciani
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D004569:Electroencephalography; D005260:Female; D005500:Follow-Up Studies; D005998:Glycine / Q000097:blood* / Q000134:cerebrospinal fluid*; D006801:Humans; D007231:Infant, Newborn
chemical_list: D005998:Glycine