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ORPHA:431361

Progressive encephalopathy with leukodystrophy due to DECR deficiency

high confidenceDisorder

Also known as: 2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

Publications

32

39.4th percentile

Trials

0

Interventional, condition-specific

Researchers

230

Distinct authors in sample

Gene link

DECR1, NADK2

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

with leukodystrophy due to DECR deficiency is a rare disease, which presents with , central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, , and intermittent lactic provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, , cerebellar , renal tubular , severe , dystonia, spastic quadriplegia and other complications may develop.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

progressive encephalopathy with leukodystrophy due to DECR 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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — DECR1, NADK2

  2. LiteraturePresent

    32 matched papers (23 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 trialPartial

    None under the specific name; 31 for broader category leukodystrophy

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 (DECR1, NADK2).

GenCC classification: Strong.

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?

32

32 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

32 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).

23 in the last 10 years · high confidence · 39.4th percentile (publications denominator)

Phrase hits: 32 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

230

Distinct author names in 32 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Millington DS3 papers · 2018

    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

    Papers in Europe PMC
  2. 02
    Chan K2 papers · 2021

    University of Illinois, Chicago, IL, USA.

    Papers in Europe PMC
  3. 03
    Denis S2 papers · 2018

    Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  4. 04
    Hiltunen JK2 papers · 2009
    Papers in Europe PMC
  5. 05
    Li Y2 papers · 2026

    Neonatal Disease Screening Center, Huaihua City Maternal and Child Health Care Hospital, Huaihua, Hunan Province, China.

    Papers in Europe PMC
  6. 06
    Adav SS1 paper · 2019

    Singapore Phenome Centre, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore 636921, Singapore.

    Papers in Europe PMC
  7. 07
    Afshar Z1 paper · 2025

    Department of Pediatric Endocrinology and Metabolism, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

    Papers in Europe PMC
  8. 08
    Amela I1 paper · 2018

    Departament de Bioquímica i Biologia Molecular and Institut de Biotecnologia i Biomedicina, Universitat Autònoma de Barcelona, 08193, Cerdanyola del Vallès, Barcelona, Spain.

    Papers in Europe PMC
  9. 09
    Amirhakimi A1 paper · 2025

    Department of Pediatric Endocrinology and Metabolism, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

    Papers in Europe PMC
  10. 10
    Amory H1 paper · 2017

    Equine Pole, Fundamental and Applied Research for Animals & Health (FARAH), Faculty of Veterinary Medicine, University of Liege, Liege, Belgium.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 31 trials are registered for leukodystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

31 interventional trials matched leukodystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: leukodystrophy

31

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.

Recruiting under the broader category

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.

"Progressive encephalopathy with leukodystrophy due to DECR deficiency" OR "2,4-dienoyl-CoA reductase deficiency" OR "DECR deficiency with hyperlysinemia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: 2,4-Dienoyl-CoA Reductase Deficiency

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

"Progressive encephalopathy with leukodystrophy due to DECR deficiency" OR "2,4-dienoyl-CoA reductase deficiency" OR "DECR deficiency with hyperlysinemia" OR "DECR1" OR "NADK2"

Recall-expansion terms: DECR1, NADK2

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

Parent-category trials query:

"leukodystrophy"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T16:00:05.734Z