Correct!
5. All of the above
No specific treatment for electron transport flavoprotein defect exists (1). A defect of this molecule causes dependence on glucose metabolism. During periods of fasting, such as that imposed by NPO status after admission for nausea/vomiting, the normal “starvation” shift of metabolism to utilization of fatty acids fails. Muscle energetics fail and the fatty acid delivered to the liver accumulate causing fatty liver. Other metabolic pathways that are affected include purine metabolism (resulting in hyperammonemia) and amino acid metabolism (resulting in glutaric aciduria – the diagnostic test performed in this patient). Preventive measures, such as high-carbohydrate and low-fat diet and frequent small meals, may be helpful. Carbohydrate supplements also are advised before and during anticipated exercise. Prolonged exercise should be avoided to prevent attacks of rhabdomyolysis.
Our patient was treated with glucose-containing intravenous fluids, carnitine, riboflavin, glucose infusion, hepatic-aid and lactulose. He made a remarkable recovery. He was quickly weaned from mechanical ventilation. His hepatomegaly completely resolved over the course of 10 days and he was discharged from the hospital.
His hospital course at the referring hospital (and several of the previous episodes he described) were clues to his diagnosis. In each case, his condition worsened after he was made NPO for nausea, and was rehydrated with saline. The ensuing starvation state stressed his impaired ability to metabolize fatty acids exacerbating all the clinical manifestations of ETFD.
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