Linked Life Data

583064

Source:http://linkedlifedata.com/resource/pubmed/id/583064

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1980-1-19
pubmed:abstractText
4 cases of nonketotic hyperglycinemia (glycine encephalopathy), one with autopsy, are presented and the literature on 61 cases is reviewed. Major clinical signs include early hypotonia, lethargy and erratic and massive myoclonias with respiratory distrubances, starting during the first days of life after a symptom-free interval. Early death is common. Survivors are severely retarded and exhibit various types of seizures including infantile spasms. The EEG pattern consists initially of periodical paroxysmal bursts on an almost flat tracing, evolving later into a hypsarrhythmic pattern. Spongiosis of the myelinated pathways is the main pathological finding. Elevated CSF glycine seems to be the essential determinant of the neurological disturbances and it is, therefore, suggested that the term glycine encephalopathy be used instead of non-ketotic hyperglycinemia. A classification of disorders associated with hyperglycinemia is proposed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0028-3797
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
209-25
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
1979
pubmed:articleTitle
Glycine encephalopathy.
pubmed:publicationType
Journal Article, Case Reports