Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.
case_report · Level V
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Abstract
A patient with glutaric aciduria type I had an acute encephalopathic crisis despite early treatment. This report indicates that current therapeutic strategies may be insufficient for some high-risk patients and stresses the demand for new approaches in glutaric aciduria type I.
Medical subject headings
- Brain Diseases, Metabolic, Inborn
- Glutarates
- Metabolism, Inborn Errors
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors