HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy.

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 (13)C 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.
AuthorsYuka Suzuki, Shigeo Kure, Masaaki Oota, Hitomi Hino, Mitsumasa Fukuda
JournalPediatric neurology (Pediatr Neurol) Vol. 43 Issue 3 Pg. 221-4 (Sep 2010) ISSN: 1873-5150 [Electronic] United States
PMID20691948 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright 2010 Elsevier Inc. All rights reserved.
Chemical References
  • Glycine
Topics
  • Glycine (blood, cerebrospinal fluid)
  • Humans
  • Hyperglycinemia, Nonketotic (blood, cerebrospinal fluid, diagnosis, therapy)
  • Infant, Newborn
  • Male

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: