Nonketotic hyperglycinemia: Proposal of a diagnostic and treatment strategy

Yuka Suzuki, Shigeo Kure, Masaaki Oota, Hitomi Hino, Mitsumasa Fukuda

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

Early myoclonic encephalopathy presents neonatally with fragmented myoclonus and a suppression-burst electroencephalography pattern. We describe a newborn boy with early myoclonic encephalopathy caused by nonketotic hyperglycinemia. He presented with severe hypotonia, progressive apneic episodes, and erratic myoclonus. Screening of deletions in GLDC, using the multiplex ligation-dependent probe amplification method, and a 13C breath test confirmed the diagnosis of nonketotic hyperglycinemia. Treatment with the N-methyl-d-aspartate receptor antagonist ketamine exerted dramatic suppressive effects on his seizures, and ameliorated his clinical status.

Original languageEnglish
Pages (from-to)221-224
Number of pages4
JournalPediatric Neurology
Volume43
Issue number3
DOIs
Publication statusPublished - 2010 Sep 1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Nonketotic hyperglycinemia: Proposal of a diagnostic and treatment strategy'. Together they form a unique fingerprint.

  • Cite this