Irish Child Health Database - Peer Reviewed Papers
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Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype
Published in:
J Inherit Metab Dis, Vol: 26, Page: 72-4
Publication Date:
2003
Aims & Objectives:
This case report discusses profound neurological presentation resulting from homozygosity - for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype
Authors:
Study Type:
Study Papers » Case Report Study » Descriptive Studies - Without a comparision
Categories:
neurological abnormalities
International Classification:
Neurological
Keywords:
- Amino Acid Metabolism, Inborn Errors/diet therapy/ genetics/ physiopathology
- Brain/pathology
- Diet, Protein-Restricted
- DNA Mutational Analysis
- Glutarates/urine
- Glutaryl-CoA Dehydrogenase
- Homozygote
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Mutation/ physiology
- Nervous System Diseases/diet therapy/ genetics/ physiopathology
- Oxidoreductases Acting on CH-CH Group Donors/deficiency/ genetics
- Phenotype
Geography:
Republic of Ireland (Dublin)

