Differential Diagnosis: Medium/Short-chain hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency.
Condition Description: M/SCHAD 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 an FAO disorder, fatty acids and potentially toxic derivatives accumulate because of a deficiency in one of the FAO enzymes.
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Plasma acylcarnitines will show increased C4-OH acylcarnitine. Urine organic acids will show increased hydroxy-dicarboxylic acids. Plasma insulin may be elevated. M/SCHAD gene sequencing can confirm the diagnosis.
The neonate is usually asymptomatic, although hypoglycemia and hyperinsulinism may be present. Severe hypoglycemia and severe hyperinsulinism may appear later. Sudden death in infancy has been reported.