These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Non-ketotic hyperglycinaemia in a neonate. A case report.
    Author: De Ravel TJ, Smith CE, Scher LG, Davies VA, Rothberg AD.
    Journal: S Afr Med J; 1991 Aug 17; 80(4):201-2. PubMed ID: 1876959.
    Abstract:
    Non-ketotic hyperglycinaemia was diagnosed in a newborn infant presenting with lethargy, apnoea, hiccoughs and myoclonic seizures. The typical findings of raised cerebrospinal fluid:plasma glycine ratio, a burst suppression pattern on electro-encephalography, hypodense areas seen on computed tomography and lack of acidosis, ketosis and serum organic acid abnormality confirmed the diagnosis. Prenatal diagnosis by investigating the glycine cleavage enzyme system from a chorionic villus sample is not yet available.
    [Abstract] [Full Text] [Related] [New Search]