RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:79311

Vitamin B12-responsive methylmalonic acidemia type cblB

high confidenceSubtype of disorder

Also known as: Vitamin B12-responsive methylmalonic aciduria, type cblB

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

Publications

43

39.4th percentile

Trials

0

Interventional, condition-specific

Researchers

315

Distinct authors in sample

Gene link

MMAB

Definitive

Readiness

2/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

methylmalonic acidemia cblB type · methylmalonic acidemia, cblB type · methylmalonic aciduria, cblB type · methylmalonic aciduria, vitamin B12-responsive, cblB type · vitamin B12-responsive methylmalonic acidemia type cblB · vitamin B12-responsive methylmalonic aciduria, type cblB

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.”

2/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — MMAB

  2. LiteraturePresent

    43 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (MMAB).

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?

43

43 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.

43 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: 43 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

315

Distinct author names in 43 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
    Pérez B7 papers · 2022

    Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria IdiPAZ, Madrid, Spain. Electronic address: bperez@cbm.csic.es.

    Papers in Europe PMC
  2. 02
    Ugarte M7 papers · 2022

    Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria IdiPAZ, Madrid, Spain.

    Papers in Europe PMC
  3. 03
    Desviat LR5 papers · 2022

    Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid, Cantoblanco, 28049 Madrid, Spain; Centro de Biología Molecular "Severo Ochoa" UAM-CSIC, Universidad Autónoma de Madrid, Cantoblanco, 28049 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPAZ), ISCIII, Madrid, Spain. Electronic address: lruiz@cbm.csic.es.

    Papers in Europe PMC
  4. 04
    Merinero B5 papers · 2018

    Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria IdiPAZ, Madrid, Spain.

    Papers in Europe PMC
  5. 05
    Richard E5 papers · 2022

    Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid, Cantoblanco, 28049 Madrid, Spain; Centro de Biología Molecular "Severo Ochoa" UAM-CSIC, Universidad Autónoma de Madrid, Cantoblanco, 28049 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPAZ), ISCIII, Madrid, Spain. Electronic address: erichard@cbm.csic.es.

    Papers in Europe PMC
  6. 06
    Brasil S4 papers · 2018

    Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Instituto de Investigación Biomédica, IDIPaz, Madrid, Spain; Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceuticals Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.

    Papers in Europe PMC
  7. 07
    Jorge-Finnigan A4 papers · 2015

    Centro de Diagnéstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain/Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.

    Papers in Europe PMC
  8. 08
    Banerjee R3 papers · 2015
    Papers in Europe PMC
  9. 09
    Gámez A3 papers · 2018

    Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria IdiPAZ, Madrid, Spain.

    Papers in Europe PMC
  10. 10
    Martinez A3 papers · 2019

    3 Department of Biomedicine, University of Bergen, Bergen, Norway.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

Broader category vitamin B12-responsive methylmalonic acidemia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: vitamin B12-responsive methylmalonic acidemia

0

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

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Observational and natural-history studies

1 observational study matches 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

Likely covered — the policy lists Methylmalonic acidemia as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Vitamin B12-responsive methylmalonic acidemia type cblB" OR "Vitamin B12-responsive methylmalonic aciduria, type cblB" OR "methylmalonic acidemia cblB type" OR "methylmalonic acidemia, cblB type" OR "methylmalonic aciduria, cblB type" OR "methylmalonic aciduria, vitamin B12-responsive, cblB type"

Run this search on Europe PMC

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

"Vitamin B12-responsive methylmalonic acidemia type cblB" OR "Vitamin B12-responsive methylmalonic aciduria, type cblB" OR "methylmalonic acidemia cblB type" OR "methylmalonic acidemia, cblB type" OR "methylmalonic aciduria, cblB type" OR "methylmalonic aciduria, vitamin B12-responsive, cblB type" OR "MMAB"

Recall-expansion terms: MMAB

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"vitamin B12-responsive methylmalonic acidemia"

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

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 2026-07-27T02:15:16.755Z