Medium-chain acyl-coenzyme A dehydrogenase deficiency: genes and variants
Medium-chain acyl-coenzyme A dehydrogenase deficiency is linked to 1 analyzed protein (ACADM). 117 DNA variants are known to cause it; 145 more are uncertain, and 18 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Medium-chain acyl-coenzyme A dehydrogenase deficiency
ACADM: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
It performs the first oxidation step for medium-chain fatty acids during mitochondrial beta-oxidation, becoming especially important during fasting. Biallelic loss-of-function variants cause MCAD deficiency, with risk of hypoketotic hypoglycemia and sudden metabolic decompensation.
117 disease-causing and 145 uncertain variants in ACADM are linked to Medium-chain acyl-coenzyme A dehydrogenase deficiency.
Known disease-causing variants in Medium-chain acyl-coenzyme A dehydrogenase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ACADM Q45R | 45 | Disease-causing (★★) | |
| ACADM P132R | 132 | Disease-causing (★★) | |
| ACADM Y158C | 158 | Disease-causing (★★) | |
| ACADM A165T | 165 | Disease-causing (★★) | |
| ACADM A205P | 205 | Disease-causing (★★) | |
| ACADM A205V | 205 | Disease-causing (★★) | |
| ACADM R248G | 248 | Disease-causing (★★) | |
| ACADM R281T | 281 | Disease-causing (★★) | |
| ACADM M326T | 326 | Disease-causing (★★) | |
| ACADM D345V | 345 | Disease-causing (★★) | |
| ACADM I356T | 356 | Disease-causing (★★) | |
| ACADM Y397N | 397 | Disease-causing (★★) | |
| ACADM R53C | 53 | Disease-causing (★★) | |
| ACADM I78T | 78 | Disease-causing (★★) | |
| ACADM D104G | 104 | Disease-causing (★★) | |
| ACADM Y158H | 158 | Disease-causing (★★) | |
| ACADM A198T | 198 | Disease-causing (★★) | |
| ACADM R413S | 413 | Disease-causing (★★) | |
| ACADM R413C | 413 | Disease-causing (★★) | |
| ACADM M1I | 1 | Disease-causing (★★) | |
| ACADM M1V | 1 | Disease-causing (★★) | |
| ACADM A56P | 56 | Disease-causing (★★) | |
| ACADM I78M | 78 | Disease-causing (★★) | |
| ACADM E111K | 111 | Disease-causing (★★) | |
| ACADM M155T | 155 | Disease-causing (★★) | |
| ACADM I185T | 185 | Disease-causing (★★) | |
| ACADM N194D | 194 | Disease-causing (★★) | |
| ACADM R206L | 206 | Disease-causing (★★) | |
| ACADM A218G | 218 | Disease-causing (★★) | |
| ACADM I223T | 223 | Disease-causing (★★) | |
| ACADM R281S | 281 | Disease-causing (★★) | |
| ACADM M328V | 328 | Disease-causing (★★) | |
| ACADM G347V | 347 | Disease-causing (★★) | |
| ACADM Y352C | 352 | Disease-causing (★★) | |
| ACADM K358M | 358 | Disease-causing (★★) | |
| ACADM I410T | 410 | Disease-causing (★★) | |
| ACADM R29Q | 29 | Disease-causing (★★) | |
| ACADM R29L | 29 | Disease-causing (★★) | |
| ACADM Y67H | 67 | Disease-causing (★★) | |
| ACADM R80G | 80 | Disease-causing (★★) | |
| ACADM L84F | 84 | Disease-causing (★★) | |
| ACADM G85R | 85 | Disease-causing (★★) | |
| ACADM C116Y | 116 | Disease-causing (★★) | |
| ACADM T121I | 121 | Disease-causing (★★) | |
| ACADM R148K | 148 | Disease-causing (★★) | |
| ACADM M149I | 149 | Disease-causing (★★) | |
| ACADM T193A | 193 | Disease-causing (★★) | |
| ACADM K197E | 197 | Disease-causing (★★) | |
| ACADM S245L | 245 | Disease-causing (★★) | |
| ACADM G267R | 267 | Disease-causing (★★) | |
| ACADM M274V | 274 | Disease-causing (★★) | |
| ACADM R294T | 294 | Disease-causing (★★) | |
| ACADM R349Q | 349 | Disease-causing (★★) | |
| ACADM T351I | 351 | Disease-causing (★★) | |
| ACADM R31H | 31 | Disease-causing (★★) | |
| ACADM M87T | 87 | Disease-causing (★★) | |
| ACADM L203F | 203 | Disease-causing (★★) | |
| ACADM G362E | 362 | Disease-causing (★★) | |
| ACADM I375T | 375 | Disease-causing (★★) | |
| ACADM R17C | 17 | Disease-causing (★★) |
Showing 60 of 117.
Uncertain variants in Medium-chain acyl-coenzyme A dehydrogenase deficiency that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| ACADM T220I | 220 | Conflicting reports (★) | +7: 4 other pathogenic changes within 3 positions; T220S at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.888 | |
| ACADM C116G | 116 | Conflicting reports (★) | +7: 6 other pathogenic changes within 3 positions; C116Y at the same position is pathogenic; seen in 2e-06 of gnomAD DNA copies; REVEL 0.921 | |
| ACADM Y352D | 352 | Conflicting reports (★) | +7: 4 other pathogenic changes within 3 positions; Y352C at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.869 | |
| ACADM A218D | 218 | Conflicting reports (★) | +7: 3 other pathogenic changes within 3 positions; A218G at the same position is pathogenic; seen in 2.7e-06 of gnomAD DNA copies; REVEL 0.863 | |
| ACADM G118R | 118 | Uncertain (★) | +7: 4 other pathogenic changes within 3 positions; G118A at the same position is pathogenic; seen in 1.4e-06 of gnomAD DNA copies; REVEL 0.985 | |
| ACADM I185S | 185 | Uncertain (★) | +7: in a 3D region that tolerates change poorly (1R); I185T at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.973 | |
| ACADM G195A | 195 | Uncertain | +7: 6 other pathogenic changes within 3 positions; G195E at the same position is pathogenic; seen in 6.9e-07 of gnomAD DNA copies; REVEL 0.848 | |
| ACADM N194S | 194 | Uncertain (★) | +7: 4 other pathogenic changes within 3 positions; N194D at the same position is pathogenic; seen in 2.1e-06 of gnomAD DNA copies; REVEL 0.926 | |
| ACADM N194K | 194 | Uncertain (★) | +7: 4 other pathogenic changes within 3 positions; N194D at the same position is pathogenic; seen in 2.1e-06 of gnomAD DNA copies; REVEL 0.865 | |
| ACADM G85C | 85 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; G85R at the same position is pathogenic; REVEL 0.967 | |
| ACADM D168A | 168 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; D168G at the same position is pathogenic; REVEL 0.985 | |
| ACADM R413H | 413 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; R413S at the same position is pathogenic; REVEL 0.927 | |
| ACADM V373A | 373 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; V373M at the same position is pathogenic; REVEL 0.968 | |
| ACADM L107S | 107 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; L107F at the same position is pathogenic; REVEL 0.936 | |
| ACADM R53H | 53 | Conflicting reports (★) | +6: 4 other pathogenic changes within 3 positions; R53C at the same position is pathogenic; REVEL 0.791 | |
| ACADM F103Y | 103 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; F103L at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.720 | |
| ACADM V289F | 289 | Uncertain (★) | +6: 2 other pathogenic changes within 3 positions; V289I at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.89 | |
| ACADM R248T | 248 | Uncertain (★★) | +6: 3 other pathogenic changes within 3 positions; R248S at the same position is pathogenic; REVEL 0.866 |
Frequently asked questions
Which genes are linked to Medium-chain acyl-coenzyme A dehydrogenase deficiency?
In CATVariant, Medium-chain acyl-coenzyme A dehydrogenase deficiency is linked to 1 analyzed protein: ACADM (Medium-chain specific acyl-CoA dehydrogenase, mitochondrial).
How many genetic variants are linked to Medium-chain acyl-coenzyme A dehydrogenase deficiency?
262 variants: 117 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 145 are of uncertain significance or have conflicting reports.
Which uncertain variants in Medium-chain acyl-coenzyme A dehydrogenase deficiency look disease-causing?
18 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example ACADM T220I, ACADM C116G, ACADM Y352D, ACADM A218D and ACADM G118R. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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