Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-3-22
pubmed:abstractText
Reported here is the novel finding of neuropathology in a patient with succinic semialdehyde dehydrogenase deficiency, an inherited disorder of gamma-aminobutyric acid metabolism characterized by intellectual deficiency, hypotonia, and epilepsy, with 4-hydroxybutyric aciduria and abnormalities of the globus pallidus on neuroimaging. A 19-year-old woman of European origin with a neurodevelopmental disorder and epilepsy died unexpectedly in 1998. A postmortem examination was performed, with a final diagnosis of sudden unexpected death in epilepsy patients. Eight years later, her sister with a neurodevelopmental disorder presented at 13 years of age with seizures and was diagnosed with succinic semialdehyde dehydrogenase deficiency. In the decedent, succinic semialdehyde dehydrogenase deficiency was established at the molecular level, 10 years after her death, using genomic DNA from brain tissue specimens. The neuropathologic findings revealed striking discoloration of the globi pallidi, leptomeningeal congestion, and a scar in the frontal cortex. After detection of the pathogenic homozygous mutation c.1226G>A, p.Gly409Asp in the living sister, it was confirmed in the decedent. An underlying metabolic disease may be an additional risk factor for sudden unexpected death in epilepsy patients.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-10934140, http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-12743223, http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-14512218, http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-14635103, http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-15075684, http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-16167199, http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-17134918, http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-17303287, http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-17457693, http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-19909329, http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-2029787, http://linkedlifedata.com/resource/pubmed/commentcorrection/20304328-2926573
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1873-5150
pubmed:author
pubmed:copyrightInfo
Copyright 2010 Elsevier Inc. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
42
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
255-8
pubmed:dateRevised
2011-9-26
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Neuropathology in succinic semialdehyde dehydrogenase deficiency.
pubmed:affiliation
Department of Neurology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, USA.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural