Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives

• Type of Material: Article
• Authors: Sarah Crawford, Cincinnati Children's Hospital; Elizabeth Sablon, Emory University; Nadia Ali, Emory University; Ami R Rosen, Emory University; Patricia L. Hall, Mayo Clinic, Rochester; Juanita Neira, Emory University
• Language: English
• Date: 2023-10-06
• Publisher: MDPI
• Publication Version: Final Published Version
• Copyright Statement: © 2023 by the authors.
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): https://doi.org/10.3390%2Fijns9040053
• Title of Journal or Parent Work: International Journal of Neonatal Screening
• Volume: 9
• Issue: 4
• Start Page: 53
• Grant/Funding Information: This research was funded by the Georgia Association of Genetic Counselors.
• Keywords: cardiomyopathy; VLCADD; medical diet; metabolism; barriers; caregiver; rhabdomyolysis
• Research Categories: Health Sciences, Nutrition

Abstract

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is a fatty acid oxidation disorder characterized by the decreased ability of the enzyme very-long-chain acyl-CoA dehydrogenase to break down fatty acids with 14 to 20-long carbon chains. The resulting clinical manifestations are variable in severity and include hypoketotic hypoglycemia, rhabdomyolysis, and cardiomyopathy. Treatment can consist of limiting the dietary intake of long-chain fatty acids, the prevention of fasting, and the supplementation of medium-chain fats. This study, conducted in the context of a 5-year long-term follow-up on VLCADD, evaluates how the diagnosis of this fatty acid disorder impacts the family, specifically as it relates to the medical diet and barriers to care. Caregivers (n = 10) of individuals with VLCADD responded to a survey about how VLCADD potentially impacts their family. The review included the clinical outcomes of the patients (n = 11), covering instances of rhabdomyolysis, cardiomyopathy, and hospitalizations related to VLCADD. Families affected by VLCADD experience barriers to care, including difficulties with finances, ability to work, and access to nutrition.