ACADM
Chr 1ARacyl-CoA dehydrogenase medium chain
Also known as: ACAD1, MCAD, MCADH
The encoded protein functions as a mitochondrial acyl-CoA dehydrogenase that catalyzes the initial step of medium-chain fatty acid beta-oxidation (C4-C12). Biallelic mutations cause medium-chain acyl-CoA dehydrogenase deficiency, an autosomal recessive disorder characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy that can result in infantile death. The pathogenic mechanism involves loss of enzymatic function leading to impaired fatty acid oxidation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
300 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 15 | 3 | 10 | 0 | 28 |
Likely Pathogenic | 39 | 30 | 3 | 1 | 73 |
VUS | 2 | 79 | 16 | 10 | 107 |
Likely Benign | 0 | 1 | 54 | 24 | 79 |
Benign | 0 | 0 | 2 | 0 | 2 |
Conflicting | — | 1 | |||
| Total | 56 | 113 | 85 | 35 | 290 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ACADM · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools