Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency can present at various ages from the neonatal period to adulthood, and poses the greatest risk of complications during intercurrent illness or after prolonged fasting. Early diagnosis, treatment, and surveillance can reduce mortality; hence, the disorder is included in the newborn Recommended Uniform Screening Panel (RUSP) in the United States. The Inborn Errors of Metabolism Information System (IBEM-IS) was established in 2007 to collect longitudinal information on individuals with inborn errors of metabolism included in newborn screening (NBS) programs, including VLCAD deficiency. We retrospectively analyzed early outcomes for individuals who were diagnosed with VLCAD deficiency by NBS and describe initial presentations, diagnosis, clinical outcomes and treatment in a cohort of 52 individuals ages 1–18 years. Maternal prenatal symptoms were not reported, and most newborns remained asymptomatic. Cardiomyopathy was uncommon in the cohort, diagnosed in 2/52 cases. Elevations in creatine kinase were a common finding, and usually first occurred during the toddler period (1–3 years of age). Diagnostic evaluations required several testing modalities, most commonly plasma acylcarnitine profiles and molecular testing. Functional testing, including fibroblast acylcarnitine profiling and white blood cell or fibroblast enzyme assay, is a useful diagnostic adjunct if uncharacterized mutations are identified.
Bibliographical noteFunding Information:
This research was facilitated by the Newborn Screening Translational Research Network (“NBSTRN”), which is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (HHSN275201300011C).
Research reported in this publication was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) , National Institutes of Health under award number 5R01HD069039 . JV was supported in part by R01DK78755. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
© 2016 Elsevier Inc.
- Fatty acid oxidation disorder
- Inborn errors of metabolism
- Natural history
- Newborn screening
- Very long chain acyl-CoA dehydrogenase deficiency