Very long chain acyl-CoA dehydrogenase deficiency
ORPHA:26793· ICD-10 E71.3
Definition
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal