title: Non-ketotic hyperglycinaemia: case report and review of medical literature.
abstract: Rare inheritable conditions may present without warning in the neonatal period and thus lead curious staff to institute expansive clinical investigations. Non-ketotic hyperglycaemia (NKH) in a normal fully grown male infant following an essentially eventful pregnancy associated with unrelated condition provoked much clinical curiosity. NKH should therefore be included as a differential diagnosis in an unwell neonate presenting with hiccoughs, seizures, myotonic jerks, and hypotonia as our very unique case clearly demonstrated.
authors.affiliation: Department of Obstetrics and Gynaecology, Pilgrim Hospital, United Lincolnshire Hospitals NHS Trust, Boston, UK.
authors.forename: Anthony Emeka
authors.initials: AE
authors.lastname: Madu
authors.forename: Lydia
authors.initials: L
authors.lastname: Oliver
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D005998:Glycine; D006606:Hiccup; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis* / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia; D020967:Myotonic Disorders; D011247:Pregnancy; D011248:Pregnancy Complications; D012640:Seizures
chemical_list: D005998:Glycine