Disease
Medium-chain acyl-CoA dehydrogenase deficiency1
Gene
ACADM
| Inheritance | AR |
|---|---|
| Current Treatments | avoid fasting |
| Evidence for Treatment | guideline2, 3 |
| Non-Molecular Testing Availability | yes |
| Non-Molecular Test | Urine acylglycine analysis1 |
| ClinGen | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1016 |
| Disease Frequency (per 100,000) | 9.354 |
| Genes Included in Disease Frequency | ACADM |
| Experimental / Investigational Therapies | https://clinicaltrials.gov/ct2/results?cond=acadm&term=&cntry=&state=&city=&dist= |
References
- 1 https://www.ncbi.nlm.nih.gov/books/NBK1424/
- 2 https://pediatrics.aappublications.org/content/early/2020/12/24/peds.2020-040303
- 3 http://www.bimdg.org.uk/store/guidelines/MCADD_Dietary_BIMDG_babies_2015v0_7_742847_13052015.pdf
- 4 https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency#statistics
Last Updated: March 5, 2026