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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2004-10-26
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pubmed:abstractText |
Twenty-one patients have been diagnosed with glutaric aciduria type I over a 16-year period in the Republic of Ireland, 11 following clinical presentation and 10 following a high-risk screen. Nineteen have been managed with diet. Eight patients have died, of whom 7 were diagnosed clinically. Six had dystonic and one spastic cerebral palsy. Of the 11 patients who did not have cerebral palsy, 10 were diagnosed following a high-risk screen. Seven of the 11 have no abnormal neurological signs; 6 of the 7 have abnormal CT or MRI findings; and no case of striatal degeneration has occurred during the past 14 years in the high-risk screened group.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
0141-8955
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
27
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
917-20
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pubmed:dateRevised |
2007-3-21
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pubmed:meshHeading |
pubmed-meshheading:15505400-Adolescent,
pubmed-meshheading:15505400-Adult,
pubmed-meshheading:15505400-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:15505400-Brain Diseases,
pubmed-meshheading:15505400-Child,
pubmed-meshheading:15505400-Child, Preschool,
pubmed-meshheading:15505400-Female,
pubmed-meshheading:15505400-Gas Chromatography-Mass Spectrometry,
pubmed-meshheading:15505400-Glutarates,
pubmed-meshheading:15505400-Glutaryl-CoA Dehydrogenase,
pubmed-meshheading:15505400-Humans,
pubmed-meshheading:15505400-Infant,
pubmed-meshheading:15505400-Ireland,
pubmed-meshheading:15505400-Magnetic Resonance Imaging,
pubmed-meshheading:15505400-Male,
pubmed-meshheading:15505400-Mutation,
pubmed-meshheading:15505400-Neostriatum,
pubmed-meshheading:15505400-Oxidoreductases Acting on CH-CH Group Donors,
pubmed-meshheading:15505400-Treatment Outcome
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pubmed:year |
2004
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pubmed:articleTitle |
Glutaric aciduria type I: outcome in the Republic of Ireland.
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pubmed:affiliation |
The National Centre of Inherited Metabolic Disorders, Children's University Hospital, Dublin 1, Ireland. Eiln@gofree.indigo.ie
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pubmed:publicationType |
Journal Article
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