acyl-CoA dehydrogenase—very long-chain—deficiency of
Definition An autosomal recessive condition (OMIM:201475) characterised by a deficiency of the acyl-CoA dehydrogenase that catalyses the first step of mitochondrial beta-oxidation of very long-chain–C14 to C20–fatty acids
• Severe early-onset cardiac and multiorgan failure form Presents in early infancy with hypertrophic or dilated cardiomyopathy, pericardial effusion, arrhythmias, hypotonia, hepatomegaly, and intermittent hypoglycemia.
• Hepatic/hypoketotic hypoglycemic form Presents during early childhood with hypoketotic hypoglycaemia and hepatomegaly, but no cardiomyopathy
• Later-onset episodic myopathic form Presents with intermittent rhabdomyolysis, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycaemia is typically absent
• Supportive IV glucose, treat arrhythmias, monitor rhabdomyolysis
• Dietary modification Low-fat, supplemental calories with medium-chain triglycerides
• Prevention of complications Acute rhabdomyolysis is treated with hydration and alkalisation of urine to protect renal function and prevent acute renal failure due to myoglobinuria.
• Avoid Fasting, myocardial irritation, dehydration, fatty foods
Molecular pathology Defects of ACADVL cause acyl-CoA dehydrogenase—very long-chain—deficiency of (OMIM:201475).
Synonyms ACADVLD, very long-chain acyl-CoA dehydrogenase deficiency, very long-chain acyl-coenzyme A dehydrogenase deficiency, VLCAD deficiency