RARE DISEASERESEARCH ATLAS
Open navigation menu

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

Publications

6,455

93.6th percentile

Trials

10

Interventional, condition-specific

Researchers

1,545

Distinct authors in sample

Gene link

ACADM

Definitive

Readiness

6/6

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ACADM

  2. LiteraturePresent

    6,455 matched papers (3,936 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Hepatomegaly; Hypoglycemia; Hyperglycinuria) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. riboflavin Source

  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)

55

Associated phenotypes · MONDO:0008721

  • Hepatomegaly
  • Hypoglycemia
  • Hyperglycinuria
  • Metabolic acidosis
  • Medium chain dicarboxylic aciduria

Showing 5 of 55 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

1

Designation · no FDA orphan-indication approval yet

  • EMA riboflavinTreatment of medium-chain acyl-coenzyme A dehydrogenase deficiency · 08/11/2023 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0008721

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

6,455

6,455 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,455 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

3,936 in the last 10 years · medium confidence · 93.6th percentile (publications denominator)

Phrase hits: 1,789 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,545

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

    Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, 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
    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
  6. 06
    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
  7. 07
    Goracci L4 papers · 2025

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

    Papers in Europe PMC
  8. 08
    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
  9. 09
    Halldin M4 papers · 2025

    Department of Women's and Children's Health, Karolinska Institutet, 171 76 Stockholm, Sweden.

    Papers in Europe PMC
  10. 10
    Heiner-Fokkema MR4 papers · 2025

    Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The Netherlands.

    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 11 September 2026 · last trial check 28 July 2026

10 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.5th percentile).

medium confidence · 92.5th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Medium chain acyl-CoA dehydrogenase deficiency — check Associations / patient organisations on that page.

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") OR ("ACADM" OR "ACADM syndrome" OR "ACADM-related")

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"

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: ok — strategies attempted: phrase; 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