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

J Matern Fetal Neonatal Med. 2013 Mar;26(5):537-9. doi: 10.3109/14767058.2012.745496. Epub 2012 Nov 29.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Gestational Age
  • Glycine
  • Hiccup
  • Humans
  • Hyperglycinemia, Nonketotic / diagnosis*
  • Hyperglycinemia, Nonketotic / genetics*
  • Infant, Newborn
  • Male
  • Muscle Hypotonia
  • Myotonic Disorders
  • Pregnancy
  • Pregnancy Complications
  • Seizures


  • Glycine