Back to Search
Start Over
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
- Source :
-
The Journal of pediatrics [J Pediatr] 1998 Aug; Vol. 133 (2), pp. 247-53. - Publication Year :
- 1998
-
Abstract
- 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 cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia. Biochemical studies indicated VLCAD deficiency caused by a stable yet inactive enzyme. Molecular genetic analysis of her VLCAD gene revealed a T1372C (F458L) missense mutation and a 1668 ACAG 1669 splice site mutation. After initial treatment with intravenous glucose and carnitine, the patient has thrived on a low-fat diet supplemented with medium-chain triglyceride oil and carnitine and avoidance of fasting. Her ventricular hypertrophy resolved significantly over 1 year, and cognitively, she is in the superior range for age. Clinical recognition of VLCAD deficiency is important because it is one of the few directly treatable causes of cardiomyopathy in children.
- Subjects :
- Acyl-CoA Dehydrogenase, Long-Chain
Cardiomyopathy, Hypertrophic metabolism
Cardiomyopathy, Hypertrophic therapy
Child, Preschool
DNA Mutational Analysis
Female
Humans
Metabolism, Inborn Errors complications
Metabolism, Inborn Errors diet therapy
Mutation
Neuropsychological Tests
Treatment Outcome
Cardiomyopathy, Hypertrophic etiology
Fatty Acid Desaturases deficiency
Metabolism, Inborn Errors genetics
Metabolism, Inborn Errors therapy
Subjects
Details
- Language :
- English
- ISSN :
- 0022-3476
- Volume :
- 133
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- The Journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 9709714
- Full Text :
- https://doi.org/10.1016/s0022-3476(98)70228-8