very long-chain acyl-CoA dehydrogenase deficiency
very long-chain acyl-CoA dehydrogenase deficiencyA condition characterised by a deficiency of very long-chain acyl-CoA dehydrogenase, which catalyses the first step of mitochondrial beta-oxidation of long-chain (14 to 20 carbons) 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 hypoglycaemia.
• 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.
VLCAD deficiency is due to a ACADVL mutation.
Supportive IV glucose, treat arrhythmias, monitor rhabdomyolysis.
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.
Fasting, myocardial irritation, dehydration, fatty foods.
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