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ORPHA:42

Medium chain acyl-CoA dehydrogenase deficiency

medium confidenceDisorder

Also known as: ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency · MCAD deficiency · MCADD · Medium chain acyl-coenzyme A dehydrogenase deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,789

92.6th percentile

Trials

10

Interventional, condition-specific

Researchers

1,466

Distinct authors in sample

Gene link

ACADM

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of fatty acid oxidation characterized by a rapidly crisis, often presenting as hypoketotic , lethargy, vomiting, and coma, which can be fatal in the absence of emergency medical intervention.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

Acyl-CoA dehydrogenase, medium chain, deficiency of · MCAD · acyl-CoA dehydrogenase, medium-chain deficiency · medium chain acyl-CoA dehydrogenase deficiency · medium chain acyl-coenzyme A dehydrogenase deficiency · medium-chain acyl-CoA dehydrogenase deficiency · medium-chain acyl-Coenzyme A dehydrogenase deficiency

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ACADM

  2. LiteraturePresent

    1,789 matched papers (824 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    10 matched on ClinicalTrials.gov (2 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (ACADM).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,789

1,789 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,789 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

824 in the last 10 years · medium confidence · 92.6th percentile (publications denominator)

Phrase hits: 1,789 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,466

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Derks TGJ6 papers · 2025

    Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands.

    Papers in Europe PMC
  2. 02
    Moreira S5 papers · 2025

    Internal Medicine Department, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.

    Papers in Europe PMC
  3. 03
    Wang Y5 papers · 2026

    Nanjing Maternal and Child Health Care Hospital, Nanjing, China.

    Papers in Europe PMC
  4. 04
    Bakker BM4 papers · 2026

    Laboratory of Paediatrics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands. b.m.bakker01@umcg.nl.

    Papers in Europe PMC
  5. 05
    Bonham JR4 papers · 2026

    Pharmacy, Diagnostics and Genetics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.

    Papers in Europe PMC
  6. 06
    Domingues MR4 papers · 2025

    CESAM - Centre for Environmental and Marine Studies, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, 3810-193 Aveiro, Portugal; Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, 3810-193 Aveiro, Portugal. Electronic address: mrd@ua.pt.

    Papers in Europe PMC
  7. 07
    Domingues P4 papers · 2025

    CESAM - Centre for Environmental and Marine Studies, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, 3810-193 Aveiro, Portugal.

    Papers in Europe PMC
  8. 08
    Garbade SF4 papers · 2025

    Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.

    Papers in Europe PMC
  9. 09
    Goracci L4 papers · 2025

    Department of Chemistry, Biology and Biotechnology, University of Perugia (Perugia), Italy.

    Papers in Europe PMC
  10. 10
    Guerra IMS4 papers · 2025

    CESAM - Centre for Environmental and Marine Studies, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, 3810-193 Aveiro, Portugal; Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, 3810-193 Aveiro, Portugal.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

10

interventional trials for this specific condition

10 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 3 trials are registered for acyl-CoA dehydrogenase deficiency, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

10 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.7th percentile).

medium confidence · 91.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

10 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: acyl-CoA dehydrogenase deficiency

3

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Observational and natural-history studies

3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Medium chain acyl-CoA dehydrogenase deficiency" OR "ACADM deficiency" OR "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency" OR "MCAD deficiency" OR "MCADD" OR "Medium chain acyl-coenzyme A dehydrogenase deficiency" OR "Acyl-CoA dehydrogenase, medium chain, deficiency of" OR "acyl-CoA dehydrogenase, medium-chain deficiency" OR "medium-chain acyl-CoA dehydrogenase deficiency" OR "medium-chain acyl-Coenzyme A dehydrogenase deficiency"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Medium chain acyl-CoA dehydrogenase deficiency" OR "ACADM deficiency" OR "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency" OR "MCAD deficiency" OR "MCADD" OR "Medium chain acyl-coenzyme A dehydrogenase deficiency" OR "Acyl-CoA dehydrogenase, medium chain, deficiency of" OR "acyl-CoA dehydrogenase, medium-chain deficiency" OR "medium-chain acyl-CoA dehydrogenase deficiency" OR "medium-chain acyl-Coenzyme A dehydrogenase deficiency" OR "ACADM"

Recall-expansion terms: ACADM

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 10 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"acyl-CoA dehydrogenase deficiency"

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MCAD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:12:37.260Z