Differential Diagnosis: : Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.
Condition Description: VLCAD deficiency is a fatty acid oxidation (FAO) disorder. Fatty acid oxidation occurs during prolonged fasting and/or periods of increased energy demands (fever, stress), when energy production relies increasingly on fat metabolism. In a FAO disorder, fatty acids and potentially toxic derivatives accumulate because of a deficiency in one of the mitochondrial FAO enzymes.
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Plasma acylcarnitine profile may show increased C14:1 acylcarnitine (and lesser elevations of other long chain acylcarnitines). Diagnosis is confirmed in consultation with the metabolic specialist by mutation analysis of the VLCAD gene and additional biochemical genetic tests.
VLCAD deficiency may present acutely in the neonate and is associated with high mortality unless treated promptly; milder variants exist. Features of severe VLCAD deficiency in infancy include hepatomegaly, cardiomyopathy and arrhythmias, lethargy, hypoketotic hypoglycemia, and failure to thrive. Treatment is available.