Multiple acyl-CoA dehydrogenase deficiency
ORPHA:26791· ICD-10 E71.3
Definition
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- All ages