Linked Life Data

9633984

Source:http://linkedlifedata.com/resource/pubmed/id/9633984

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1998-9-8
pubmed:abstractText
Two cases of glutaric aciduria type 1 (GA 1) are presented. GA 1 is probably underdiagnosed and misdiagnosed, and may explain a proportion of cases of extrapyramidal and 'postencephalitic' cerebral palsy. Most cases of GA 1 present with a severe dystonic-dyskinetic syndrome following an acute encephalopathy. Asymptomatic cases have also been described, complicating genetic counselling and prenatal diagnosis. We raise awareness of GA 1 and stress that if clinically suspected, immediate institution of therapy may reduce late morbidity. Moreover, if recognised in the presymptomatic stage, early institution of treatment may prevent the onset of neurological symptoms. GA 1 is an inborn error of lysine and tryptophan catabolism, caused by deficiency of the enzyme, glutaryl coenzyme-A dehydrogenase. Urine organic acid analyses may be negative. Blood acylcarnitine profile has recently been employed as a more sensitive test but was negative in both our patients. Enzyme assay remains the definitive diagnostic test.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1034-4810
pubmed:author
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
302-4
pubmed:dateRevised
2007-9-24
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Glutaric aciduria type 1: an underdiagnosed cause of encephalopathy and dystonia-dyskinesia syndrome in children.
pubmed:affiliation
The Murdoch Institute, Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia.
pubmed:publicationType
Journal Article, Case Reports