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Glutaric aciduria type I: outcome in the Republic of Ireland
- Source :
- Journal of inherited metabolic disease. 27(6)
- Publication Year :
- 2004
-
Abstract
- 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.
- Subjects :
- Neurological signs
Adult
Male
medicine.medical_specialty
Pediatrics
Oxidoreductases Acting on CH-CH Group Donors
Adolescent
Glutaryl-CoA dehydrogenase
Glutaric aciduria type 1
Gas Chromatography-Mass Spectrometry
Cerebral palsy
Glutarates
Spastic cerebral palsy
Genetics
medicine
Humans
Child
Amino Acid Metabolism, Inborn Errors
Genetics (clinical)
Brain Diseases
Glutaryl-CoA Dehydrogenase
business.industry
Glutaric aciduria
Infant
medicine.disease
Magnetic Resonance Imaging
Surgery
Neostriatum
Treatment Outcome
Child, Preschool
Mutation
Female
business
Ireland
Mri findings
Glutaric Acidemia Type 1
Subjects
Details
- ISSN :
- 01418955
- Volume :
- 27
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Journal of inherited metabolic disease
- Accession number :
- edsair.doi.dedup.....b59f5a5f647afb20d32be0340a1abe03