Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.
case_report · Level V
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Abstract
Glutaric aciduria type I usually presents with an acute metabolic crisis during infancy. The authors report a previously healthy 19-year-old woman who presented with recurrent headaches, oculomotor symptoms, and a severe leukoencephalopathy on MRI. The diagnosis was made by urinary organic acid analysis and confirmed by enzyme studies. Genetic analysis revealed compound heterozygosity with a deletion c.219delC in exon 3 and a novel missense mutation R132G in exon 5 of the glutaryl CoA dehydrogenase (GCDH) gene.
Medical subject headings
- Amino Acid Metabolism, Inborn Errors
- Brain
- Glutarates
- Nervous System Diseases
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors