acyl-CoA dehydrogenase very long-chain deficiency
acyl-CoA dehydrogenase very long-chain deficiencyA clinically heterogeneous inborn error (OMIM:201475) of mitochondrial fatty acid beta-oxidation, leading to impaired long-chain fatty acid beta-oxidation.
Major phenotypes of ACADVLD
• Severe childhood form—Early onset, high mortality and high incidence of cardiomyopathy.
• Mild childhood form—Later onset, hypoketotic hypoglycaemia, low mortality and rare incidence of cardiomyopathy.
• Adult form—Isolated muscle involvement, rhabdomyolysis, myoglobinuria; triggered by exercise or fasting.
Defects of ACADL cause long-chain acyl-CoA dehydrogenase (LCAD) deficiency