Very long chain
acyl-CoA dehydrogenase (
VLCAD)
deficiency is one of the genetic defects of mitochondrial
fatty acid beta-
oxidation presenting in early infancy or childhood. If undiagnosed and untreated,
VLCAD deficiency may be fatal,
secondary to cardiac involvement. We assessed the effect of replacing part of the fat in the
diet of a 2 ½-month-old
male infant,
who was diagnosed with
VLCAD deficiency,with medium-chain
triglyceride (MCT) oil and essential
fats. The
patient presented with
vomiting,
dehydration, and was found to have persistent elevation of
liver function tests,
hepatomegaly, pericardial and
pleural effusion,
right bundle branch block, and biventricular
hypertrophy. Because of the
cardiomyopathy,
hepatomegaly, and an abnormal acylcarnitine profile and
urine organic acids, he was suspected of having
VLCAD deficiency. This was confirmed on
acyl-coA dehydrogenase, very long chain (ACADVL)
gene analysis. He was begun on an MCT oil-based formula with added
essential fatty acids, uncooked
cornstarch (around 1 year of age), and frequent feeds. By 7 months of age,
cardiomyopathy had reversed and by 18 months of age, all cardiac medications were discontinued and
hypotonia had improved such that
physical therapy was no longer required. At 5 years of age, he is at the 50th percentile for height and weight along with normal development.
Pediatricians need to be aware about the basic pathophysiology of the
disease and the rationale behind its
treatment as more
patients are being diagnosed because of expansion of
newborn screen. The use of MCT oil as a medical intervention for
treatment of
VLCAD deficiency remains controversial mostly because of lack of clear
phenotype-
genotype correlations,
secondary to the genetic heterogeneity of the
mutations. Our case demonstrated the medical necessity of MCT oil-based nutritional intervention and the need for the further
research for the development of specific guidelines to improve the care of these
patients.