The major purpose behind the conduction of this study was to describe the clinical and genetic manifestations of six patients with adult‐onset VLCADD.
The study described the findings of six adult patients with VLCADD and their response to treatment.
The median age of the patient at the time of the visit was 31 years. Data indicated that the median age of onset was approximately 26.5 years. Parental consanguinity was present in 4 patients. 4 patients had a history of rhabdomyolysis. Three patients participating in the study had a history of exertional myalgia, and one patient had a non‐fluctuating weakness. Through next‐generation sequencing analysis, we identified six cases with variants in the ACADVL gene and a confirmed diagnosis of VLCADD. The researchers identified the six variants, 5 out of 6 were missense, and one was a novel frameshift mutation identified in two unrelated individuals. 2 variants were novel. In the study, the researchers previously reported three variants. The researchers treated the patients with a combination of L‐carnitine, Coenzyme Q10, and riboflavin. Three patients responded favorably to the treatment.
The study concluded through its findings that the adult‐onset VLCADD is a rare entity with various presentations. Patients may respond favorably to a cocktail of L‐carnitine, Coenzyme Q10, and riboflavin.
Reference: https://onlinelibrary.wiley.com/doi/10.1111/ene.14402
