A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy

Eur J Paediatr Neurol. 2016 Jan;20(1):192-5. doi: 10.1016/j.ejpn.2015.08.008. Epub 2015 Sep 5.

Abstract

Early myoclonic encephalopathy (EME) presents in neonatal period with erratic or fragmentary myoclonus and a burst-suppression electroencephalography (EEG) pattern. Nonketotic hyperglycinemia (NKH) is the most common metabolic cause of EME and genetic testing confirms the diagnosis of NKH in around 75% of the patients with a clinical diagnosis of NKH. Three genes are known to cause NKH. Here we describe a case of EME caused by NKH in which a new mutation in aminomethyltransferase (AMT) gene has been detected.

Keywords: AMT gene mutations; Burst-suppression; Early myoclonic encephalopathy; Massive myoclonus; Nonketotic hyperglycinemia; Tonic spasms.

Publication types

  • Case Reports

MeSH terms

  • Aminomethyltransferase / genetics*
  • Electroencephalography
  • Humans
  • Hyperglycinemia, Nonketotic / complications
  • Hyperglycinemia, Nonketotic / genetics*
  • Infant, Newborn
  • Male
  • Mutation
  • Spasms, Infantile / genetics*

Substances

  • Aminomethyltransferase

Supplementary concepts

  • Epileptic Encephalopathy, Early Infantile, 3