Table 6.

Routine Daily Treatment in Individuals with VLCAD Deficiency

Principle/
Manifestation		TreatmentConsiderations/Other
Restriction of long-chain fats in persons w/severe disease 1Low-fat formula 2, 3 or low long-chain fat / high MCT medical foodRanging from 13% to 39% of calories as total fat (See Table 7.)
MCT oil OR triheptanoin (Dojolvi®) supplementation 4, 5
  • For MCT oil: to provide an addl 15%-18% of calories (See Table 7.)
  • For triheptanoin: to provide 30% of daily caloric intake 6
Total dietary protein at or above the DRI for age
The Institute of Medicine EER calculation for physical activity & age can be used to predict energy needs. 7In infants & children who are gaining weight & are otherwise healthy
Consider supplementation w/:
  • LA (3%-4% of total energy)
  • ARA (0.5%-1.2% of total energy)
  • ALA (0.5% of total energy)
  • DHA (infants/toddlers: 60 mg/day; older persons: 100 mg/day)
For those requiring long-chain fat restriction
Prevention of catabolism from overnight fastingFrequent feeding, incl awakening an infant for feeding or overnight enteral feeding if necessaryIn infants
Consider bedtime snack high in complex carbohydrates.For children & adults
Exercise intolerance in older persons
  • MCT oil at 0.5 g/kg lean body weight 20 min prior to exercise 8
  • Exercise guided by affected person's tolerance level
Avoidance of severe exercise (e.g., military training)Which may unmask symptoms in previously asymptomatic adults 9 (See Agents/Circumstances to Avoid.)
Secondary carnitine deficiency
  • Initial oral dosage of 10-25 mg L-carnitine/kg/day divided into 3-4 doses is typical.
  • Dose is adjusted on an individual basis to maintain plasma free L-carnitine concentration w/in normal age-appropriate reference range.
Supplemental carnitine may not be required but should be considered in those w/free carnitine concentration <10 µmol/L.
CardiomyopathyStandard treatment per cardiologistW/appropriate dietary modification & cardiac support (incl use of ECMO when appropriate), cardiac dysfunction may be reversible.
↑ energy/caloric demandsNasogastric tube feeding to address feeding issuesAdequate provision of info & education to parents, affected persons, & caregivers
Speech / gross
motor delay
  • Speech therapy
  • Physical therapy
  • Rehab therapy

ALA = alpha-linolenic acid; ARA = arachidonic acid; DHA = docosahexaenoic acid; DRI = dietary reference intake; ECMO = extracorporeal membrane oxygenation; EER = estimated energy requirement; LA = linoleic acid; MCT = medium-chain triglycerides

1.
2.

Breast-feeding (or using expressed breast milk) without MCT oil supplements may be considered in asymptomatic neonates predicted to have mild VLCAD deficiency who are growing well, as long as fasting precautions are followed.

3.

In asymptomatic infants with moderate VLCAD deficiency, breast-feeding (or using expressed breast milk) can be used with consideration of supplementation with a low long-chain fat / high MCT medical food [Van Calcar et al 2020].

4.

Triheptanoin, a synthetic seven odd medium-chain fatty acid triglyceride, was approved by the FDA in June 2020 [Sklirou et al 2021, Zöggeler et al 2021].

5.

The FDA recommends discontinuing MCT products prior to initiation of triheptanoin therapy. In the retrospective study by Zöggeler et al [2021], affected individuals were given parallel administration of MCT oil and triheptanoin.

6.
7.
8.
9.

From: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

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