acyl-CoA dehydrogenase very long-chain deficiency

acyl-CoA dehydrogenase very long-chain deficiency

A 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.

Molecular pathology
Defects of ACADL cause long-chain acyl-CoA dehydrogenase (LCAD) deficiency

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