Table 10.

Acute Inpatient Treatment in Individuals with MADD

Manifestation/ConcernTreatmentConsideration/Other
Hypoglycemia IV fluid should be started w/high-dose glucose (8-12 mg/kg/min for young patients) to maintain blood glucose >100 mg/dL 1
  • High-dose glucose needed to avoid catabolism
  • If hyperglycemia: start insulin infusion rather than ↓ glucose infusion rate.
Metabolic acidosis
  • For severe metabolic acidosis (pH <7.10): initiate bicarbonate therapy.
  • A common formula for bicarbonate dose is: bicarbonate (mEq) = 0.5 x weight (kg) x [desired bicarbonate - measured bicarbonate]
  • Give half of calculated dose as slow bolus & remaining half 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.
  • If severe hyperammonemia & altered mental status persists after above measures, consider extracorporeal toxin removal procedures (e.g., hemodialysis, hemofiltration).
Although IV sodium benzoate w/sodium phenylacetate has been used in such circumstances, utility is doubtful.
Rhabdomyolysis
  • Start IV fluid containing 10% dextrose & electrolytes as necessary at 1.5-2x maintenance to provide adequate hydration & calories, & ensure a urine output of >3 mL/kg/hr to prevent acute renal failure.
  • If there is acute renal failure at presentation, a nephrologist should be consulted for hemodialysis.
  • Avoid treating rhabdomyolysis w/glucose-free IV fluid such as 0.45% normal saline, as it will promote catabolism & worsening of rhabdomyolysis.
  • If hyperglycemia develops due to high dextrose infusion, start insulin infusion.
Carnitine deficiency If severe carnitine deficiency or carnitine depletion: start IV levocarnitine at 50-100 mg/kg/day in 4 divided doses.In less severe carnitine deficiency: start oral levocarnitine once affected person is stable because of concern for cardiac arrhythmias due to accumulation of long-chain acylcarnitines during acute metabolic crisis.

Note: For late-onset MADD, oral riboflavin should be initiated as soon as possible (see Table 8).

IV = intravenous; mEq = milliequivalent

1.

Monitor blood glucose levels every 1-2 hours initially.

2.

Intralipid administration is contraindicated; supplemental calories should be provided in the form of carbohydrates.

3.

Note that bicarbonate therapy alone is not sufficient to correct the metabolic acidosis. Correction of metabolic acidosis relies on reversing the catabolic state by providing calorie support from glucose.

From: Multiple Acyl-CoA Dehydrogenase Deficiency

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