Table 7. [Acute Inpatient Treatment in Individuals with LCHAD/TFP Deficiency]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Hypoglycemia	IV fluid w/high dextrose content (≥10%) to maintain blood glucose >100 mg/dL. ¹ Starting fluid at 1.5x maintenance usually achieves this goal. Glucose infusion rate of 8-12 mg/kg/min is usually needed for young children.	High-dose glucose is needed to avoid catabolism. If there is hyperglycemia, start insulin infusion rather than reducing glucose infusion rate.
Metabolic acidosis	For severe metabolic acidosis (pH <7.10), initiate bicarbonate therapy. A common formula for bicarbonate dose: bicarbonate (mEq) = 0.5 x weight (kg) x [desired bicarbonate − measured bicarbonate] Give 1/2 of calculated dose as slow bolus & remaining 1/2 over 24 hrs.	Metabolic acidosis usually improves w/generous fluid & calorie support. ² Bicarbonate therapy is needed for severe metabolic acidosis. ³
Hyperammonemia	Hyperammonemia improves w/reversal of catabolism. High-dose glucose infusion w/insulin infusion is helpful in achieving this goal. If severe hyperammonemia & altered mental status persists after above measures, consider extracorporeal toxin removal procedures such as hemodialysis & hemofiltration.	Although IV sodium benzoate w/sodium phenylacetate have been used in such circumstances, their utility is doubtful.
Rhabdomyolysis	Start IV fluid containing 10% dextrose & electrolytes as needed at 2x maintenance (in children) to provide adequate hydration & calories & ensure urine output of >3 mL/kg/hr to prevent acute renal failure. ⁴ For adults, start IV fluid at 400 mL/hour; tailor to maintain urine output of ~200 mL/hr. ⁵ If there is acute renal failure at presentation, consult nephrologist for hemodialysis.	Avoid treatment of rhabdomyolysis by glucose-free hypotonic IV fluid such as 0.45 normal saline, as it will promote catabolism & worsen rhabdomyolysis. If hyperglycemia develops due to high dextrose infusion, start insulin infusion.
Cardiac failure	Manage cardiac failure due to cardiomyopathy in collaboration w/cardiologist.	Consider triheptanoin for those persons not taking it, as it was reported to be useful in mgmt of acute cardiomyopathy. ⁶

Manifestation/
Concern

Treatment

Considerations/Other

Hypoglycemia

IV fluid w/high dextrose content (≥10%) to maintain blood glucose >100 mg/dL. ¹
Starting fluid at 1.5x maintenance usually achieves this goal.
Glucose infusion rate of 8-12 mg/kg/min is usually needed for young children.

High-dose glucose is needed to avoid catabolism.
If there is hyperglycemia, start insulin infusion rather than reducing glucose infusion rate.

Metabolic
acidosis

For severe metabolic acidosis (pH <7.10), initiate bicarbonate therapy.
A common formula for bicarbonate dose: bicarbonate (mEq) = 0.5 x weight (kg) x [desired bicarbonate − measured bicarbonate]
Give 1/2 of calculated dose as slow bolus & remaining 1/2 over 24 hrs.

Metabolic acidosis usually improves w/generous fluid & calorie support. ²
Bicarbonate therapy is needed for severe metabolic acidosis. ³

Hyperammonemia

Hyperammonemia improves w/reversal of catabolism.
High-dose glucose infusion w/insulin infusion is helpful in achieving this goal.
If severe hyperammonemia & altered mental status persists after above measures, consider extracorporeal toxin removal procedures such as hemodialysis & hemofiltration.

Although IV sodium benzoate w/sodium phenylacetate have been used in such circumstances, their utility is doubtful.

Rhabdomyolysis

Start IV fluid containing 10% dextrose & electrolytes as needed at 2x maintenance (in children) to provide adequate hydration & calories & ensure urine output of >3 mL/kg/hr to prevent acute renal failure. ⁴
For adults, start IV fluid at 400 mL/hour; tailor to maintain urine output of ~200 mL/hr. ⁵
If there is acute renal failure at presentation, consult nephrologist for hemodialysis.

Avoid treatment of rhabdomyolysis by glucose-free hypotonic IV fluid such as 0.45 normal saline, as it will promote catabolism & worsen rhabdomyolysis.
If hyperglycemia develops due to high dextrose infusion, start insulin infusion.

Cardiac failure

Manage cardiac failure due to cardiomyopathy in collaboration w/cardiologist.

Consider triheptanoin for those persons not taking it, as it was reported to be useful in mgmt of acute cardiomyopathy. ⁶

From: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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