Management of acute episodes of metabolic decompensation are treated by restoring anabolism, typically with institution of glucose containing fluids to give >8 mg/kg/min of glucose. A dose of IV carnitine if not receiving chronic therapy can improve metabolite excretion. Dialysis or hemofiltration can be used if acidosis or hyperammonemia do not resolve with initial therapy or are extreme. Use of carglumic acid to reduce hyperammonemia in acute episodes has not been studied. A return to enteral feeds as soon as clinically safe will shorten episodes of decompensation.
Chronic treatment has traditionally included restriction of dietary leucine, though careful monitoring to ensure sufficient intake is maintained to support normal growth and development. If necessary, leucine restricted medical formula can be used to achieve desired protein intake. Supplementation with carnitine (100 mg/kg/day divided tid) and or glycine (150-250 mg/kg/day divided qid) will improve metabolite excretion.