Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 15985591.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood.
Medical subject headings
- Brain Diseases, Metabolic, Inborn
- Cerebral Cortex
- Glutaryl-CoA Dehydrogenase