Non-ketotic hyperglycinaemia: case report and review of medical literature.

Anthony Emeka Madu, Lydia Oliver

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2013;26(5):537-9

PMID: 23134083

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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.

Address: Department of Obstetrics and Gynaecology, Pilgrim Hospital, United Lincolnshire Hospitals NHS Trust, Boston, UK.

DOI: 10.3109/14767058.2012.745496

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MeSH Terms: Adult, Diagnosis, Differential, Fatal Outcome, Female, Gestational Age, Glycine, Hiccup, Humans, Hyperglycinemia, Nonketotic, Infant, Newborn, Male, Muscle Hypotonia, Myotonic Disorders, Pregnancy, Pregnancy Complications, Seizures