IEMbase 0234: ACADM-related Medium-chain acyl-CoA dehydrogenase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 234 |
| Nosology | 4.2.02.01 |
| Gene | ACADM |
| External IDs | OMIM:201450 |
| Generated mapping | MAPPED; MCAD_Deficiency.yaml |
| Candidate DisMech targets | MCAD_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as ACADM-related medium-chain acyl-CoA dehydrogenase deficiency, with the alternate label MCAD. The record is autosomal recessive and treatability is marked yes.
The biochemical rows include hexanoylglycine, phenylpropionylglycine, suberylglycine, C6, C8, C10, and C10:1 acylcarnitines, C8/C12 and C8/C2 ratios, free carnitine, transaminases, hypoketotic hypoglycemia context, multiple medium-chain/dicarboxylic organic acids, glucose, and octanoylglucuronide. Clinical rows include asymptomatic presentation. Characteristic rows include liver dysfunction. Treatments listed by IEMbase are fasting avoidance and L-carnitine supplements.
DisMech phenotype coverage
MCAD_Deficiency.yaml is the correct target. The local entry covers biallelic
ACADM disease, reduced medium-chain acyl-CoA dehydrogenase activity, impaired
C4-C12 fatty-acid beta-oxidation, reduced fasting ketogenesis, hypoketotic
hypoglycemia, hepatic energy failure, hepatomegaly, encephalopathy, sudden
death risk, toxic medium-chain fatty-acid intermediate accumulation, newborn
screening impact, asymptomatic status until fasting or illness, fasting
avoidance, emergency dextrose management, and carnitine supplementation context.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on ACADM/MCAD identity, medium-chain fatty-acid oxidation mechanism, fasting/illness-triggered hypoketotic crisis biology, liver involvement, asymptomatic presentation before stress, fasting avoidance, and carnitine supplementation. IEMbase is particularly useful for granular diagnostic-marker prompts, including C8-centered ratios, acylglycines, suberylglycine, dicarboxylic acids, and octanoylglucuronide.
Curation actions
- Keep this record mapped to
MCAD_Deficiency.yaml. - No mapping correction is needed.
- Use IEMbase as a compact biomarker enrichment checklist if MCAD diagnostic markers are refreshed.