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ORPHA:79310

Vitamin B12-responsive methylmalonic acidemia type cblA

high confidenceSubtype of disorder

Also known as: Vitamin B12-responsive methylmalonic aciduria type cblA

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

Publications

171

68th percentile

Trials

0

Interventional, condition-specific

Researchers

1,025

Distinct authors in sample

Gene link

MMAA

Definitive

Readiness

2/6

Stages with a signal

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 (10)

Methylmalonic aciduria, vitamin B12-responsive, cblA type · cobalamin A disease · cobalamin B disease · methylmalonic acidemia cblA type · methylmalonic acidemia, cblA type · methylmalonic aciduria cblA type · methylmalonic aciduria, cblA type · methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type · vitamin B12-responsive methylmalonic acidemia type cblA · vitamin B12-responsive methylmalonic aciduria type cblA

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 — MMAA

  2. LiteraturePresent

    171 matched papers (109 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 (MMAA).

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?

171

171 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.

171 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).

109 in the last 10 years · high confidence · 68th percentile (publications denominator)

Phrase hits: 171 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,025

Distinct author names in 171 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
    Ferreira CR5 papers · 2023

    Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.

    Papers in Europe PMC
  2. 02
    Liu X5 papers · 2025

    Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China. 18940251973@163.com.

    Papers in Europe PMC
  3. 03
    Venditti CP5 papers · 2016

    Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

    Papers in Europe PMC
  4. 04
    Kölker S4 papers · 2023

    Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany.

    Papers in Europe PMC
  5. 05
    Rosenblatt DS4 papers · 2024

    Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.

    Papers in Europe PMC
  6. 06
    van Karnebeek CDM4 papers · 2024

    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.

    Papers in Europe PMC
  7. 07
    Benoist JF3 papers · 2014

    Department of Biochemistry and Hormonology, Robert Debré Hospital, Paris, France.

    Papers in Europe PMC
  8. 08
    Carducci C3 papers · 2025

    Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy.

    Papers in Europe PMC
  9. 09
    Ficicioglu C3 papers · 2019

    Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  10. 10
    Gahl WA3 papers · 2020

    Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

    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 cblA" OR "Vitamin B12-responsive methylmalonic aciduria type cblA" OR "Methylmalonic aciduria, vitamin B12-responsive, cblA type" OR "cobalamin A disease" OR "cobalamin B disease" OR "methylmalonic acidemia cblA type" OR "methylmalonic acidemia, cblA type" OR "methylmalonic aciduria cblA type" OR "methylmalonic aciduria, cblA type" OR "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" OR "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of the adenosylcobalamin cblA 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 cblA" OR "Vitamin B12-responsive methylmalonic aciduria type cblA" OR "Methylmalonic aciduria, vitamin B12-responsive, cblA type" OR "cobalamin A disease" OR "cobalamin B disease" OR "methylmalonic acidemia cblA type" OR "methylmalonic acidemia, cblA type" OR "methylmalonic aciduria cblA type" OR "methylmalonic aciduria, cblA type" OR "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" OR "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of the adenosylcobalamin cblA type" OR "MMAA"

Recall-expansion terms: MMAA

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 2026-07-27T02:15:10.129Z