Disease
Very long-chain acyl-CoA dehydrogenase deficiency1, 2, 3
Gene
ACADVL
| Inheritance | AR |
|---|---|
| Current Treatments | avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin |
| Evidence for Treatment | guideline4 |
| Non-Molecular Testing Availability | no |
| ClinGen | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC126 |
| Disease Frequency (per 100,000) | 1.6655 |
| Genes Included in Disease Frequency | ACADVL |
| Experimental / Investigational Therapies | https://clinicaltrials.gov/ct2/results?cond=ACADVL&term=&cntry=&state=&city=&dist= |
References
- 1 https://www.ncbi.nlm.nih.gov/books/NBK6816/
- 2 https://pubmed.ncbi.nlm.nih.gov/31372341/
- 3 https://pubmed.ncbi.nlm.nih.gov/32885845/
- 4 https://www.sciencedirect.com/science/article/abs/pii/S1096719220302018
- 5 https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency#statistics
Last Updated: March 5, 2026