Article
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
The Journal of pediatrics - 1 Aug 1998
Cox G F, Souri M, Aoyama T, Rockenmacher S, Varvogli L, Rohr F, Hashimoto T, Korson M S
Abstract excerpt
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is a disorder of fatty acid beta oxidation that reportedly has high rates of morbidity and mortality. We describe the outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic...
Topics
- Acyl-CoA Dehydrogenase, Long-Chain
- Cardiomyopathy, Hypertrophic
- Child, Preschool
- DNA Mutational Analysis
- Fatty Acid Desaturases
- Female
- Humans
- Metabolism, Inborn Errors
- Mutation
- Neuropsychological Tests
- Treatment Outcome